ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu)

gnomAD frequency: 0.00001  dbSNP: rs782485961
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Total submissions: 3
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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 RCV000615722 SCV000731812 uncertain significance not specified 2017-08-30 criteria provided, single submitter clinical testing The p.Met662Leu variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 1/18710 East As ian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org/; dbSNP rs782485961). Although this variant has been seen in the ge neral population, its frequency is not high enough to rule out a pathogenic role . Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical signi ficance of this variant is uncertain.
Invitae RCV001228041 SCV001400424 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 662 of the MYO7A protein (p.Met662Leu). This variant is present in population databases (rs782485961, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 517510). 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. 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. RCV001276683 SCV001463191 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing

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