NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001309116.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)]

NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)

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.1997G>A (p.Arg666Gln)
HGVS:
  • NC_000011.10:g.77174817G>A
  • NG_009086.1:g.51554G>A
  • NG_009086.2:g.51572G>A
  • NM_000260.4:c.1997G>AMANE SELECT
  • NM_001127180.2:c.1997G>A
  • NM_001369365.1:c.1964G>A
  • NP_000251.3:p.Arg666Gln
  • NP_001120652.1:p.Arg666Gln
  • NP_001356294.1:p.Arg655Gln
  • LRG_1420t1:c.1997G>A
  • LRG_1420:g.51572G>A
  • LRG_1420p1:p.Arg666Gln
  • NC_000011.9:g.76885863G>A
  • NM_000260.3:c.1997G>A
  • NM_000260.4(MYO7A):c.1997G>AMANE SELECT
  • p.Arg666Gln
Protein change:
R655Q
Links:
dbSNP: rs782396605
NCBI 1000 Genomes Browser:
rs782396605
Molecular consequence:
  • NM_000260.4:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1964G>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
SCV001498602Invitaecriteria provided, single submitter
Uncertain significance
(Aug 20, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, et al.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

PubMed [citation]
PMID:
27460420
PMCID:
PMC5117943

PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.

Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I.

Retina. 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636.

PubMed [citation]
PMID:
31479088
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001498602.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces arginine with glutamine at codon 666 of the MYO7A protein (p.Arg666Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs782396605, ExAC 0.01%). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 27460420, 31479088, 27344577). 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

Last Updated: Nov 27, 2021

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