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NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 25, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000036197.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)]

NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)

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.5618G>A (p.Arg1873Gln)
HGVS:
  • NC_000011.10:g.77205599G>A
  • NG_009086.2:g.82354G>A
  • NM_000260.4:c.5618G>AMANE SELECT
  • NM_001127180.2:c.5504G>A
  • NM_001369365.1:c.5471G>A
  • NP_000251.3:p.Arg1873Gln
  • NP_001120652.1:p.Arg1835Gln
  • NP_001356294.1:p.Arg1824Gln
  • LRG_1420t1:c.5618G>A
  • LRG_1420:g.82354G>A
  • LRG_1420p1:p.Arg1873Gln
  • NC_000011.9:g.76916644G>A
  • NG_009086.1:g.82335G>A
  • NM_000260.3:c.5618G>A
  • NM_000260.4(MYO7A):c.5618G>AMANE SELECT
  • c.5618G>A
Protein change:
R1824Q
Links:
dbSNP: rs397516322
NCBI 1000 Genomes Browser:
rs397516322
Molecular consequence:
  • NM_000260.4:c.5618G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.5504G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.5471G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059849Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Likely pathogenic
(Mar 25, 2011) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, et al.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.

PubMed [citation]
PMID:
16963483
PMCID:
PMC2598068

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059849.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The Arg1873Gln variant in MYO7A has been identified in one proband with Usher ty pe I (Cremers 2007). In addition, this residue is highly conserved across evolut ionary distant species and computational analyses (PolyPhen2, SIFT) suggest that the variant may impact the protein. Furthermore, a different variant at the sam e position, Arg1873Trp, has been reported in five probands with Usher syndrome T ype 1 and is classified as pathogenic. In summary, the Arg1873Gln variant is lik ely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Jun 29, 2025