ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)

gnomAD frequency: 0.00003  dbSNP: rs777954362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050122 SCV001214215 uncertain significance not provided 2024-11-11 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 1790 of the MYO7A protein (p.Arg1790Cys). 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: 846738). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Genome-Nilou Lab RCV001580562 SCV001810512 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273511 SCV001456622 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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