NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 7, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000171199.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)]

NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
HGVS:
  • NC_000011.10:g.77179856G>A
  • NG_009086.1:g.56593G>A
  • NG_009086.2:g.56611G>A
  • NM_000260.4:c.2489G>AMANE SELECT
  • NM_001127180.2:c.2489G>A
  • NM_001369365.1:c.2456G>A
  • NP_000251.3:p.Arg830His
  • NP_001120652.1:p.Arg830His
  • NP_001356294.1:p.Arg819His
  • LRG_1420t1:c.2489G>A
  • LRG_1420:g.56611G>A
  • LRG_1420p1:p.Arg830His
  • NC_000011.9:g.76890902G>A
  • NM_000260.3:c.2489G>A
Protein change:
R819H
Links:
dbSNP: rs371029653
NCBI 1000 Genomes Browser:
rs371029653
Molecular consequence:
  • NM_000260.4:c.2489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.2489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.2456G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221396Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria provided
Likely pathogenicgermlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV001415477Invitaecriteria provided, single submitter
Uncertain significance
(Dec 2, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001805670GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 7, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.

Dallol A, Daghistani K, Elaimi A, Al-Wazani WA, Bamanie A, Safiah M, Sagaty S, Taha L, Zahed R, Bajouh O, Chaudhary AG, Gari MA, Turki R, Al-Qahtani MH, Abuzenadah AM.

BMC Med Genet. 2016 Oct 10;17(Suppl 1):67.

PubMed [citation]
PMID:
27766948
PMCID:
PMC5073994
See all PubMed Citations (3)

Details of each submission

From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000221396.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001415477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces arginine with histidine at codon 830 of the MYO7A protein (p.Arg830His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. While this variant is present in population databases (rs371029653), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with autosomal recessive hearing loss (PMID: 27766948). ClinVar contains an entry for this variant (Variation ID: 191024). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001805670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32884365, 27766948)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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