ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys)

dbSNP: rs377391891
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594875 SCV000704511 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594875 SCV001499395 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1408 of the MYO7A protein (p.Arg1408Cys). 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 variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 499163). 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.
New York Genome Center RCV001839013 SCV002099274 uncertain significance Usher syndrome type 1 2021-04-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829649 SCV002088441 uncertain significance Usher syndrome type 1B 2020-01-16 no assertion criteria provided clinical testing

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