ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)

gnomAD frequency: 0.00003  dbSNP: rs762258869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221469 SCV000272158 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing The p.Arg2031Gln variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/18592 Europe an chromosomes and 1/2270 East Asian chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org). Computational prediction tools do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Arg2031Gln variant is uncertain.
Counsyl RCV000664976 SCV000789022 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV002519643 SCV003454265 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2031 of the MYO7A protein (p.Arg2031Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with deafness (PMID: 30733538). ClinVar contains an entry for this variant (Variation ID: 229010). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYO7A protein function with a negative predictive value of 95%. 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.
Natera, Inc. RCV001275531 SCV001460746 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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