ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe)

dbSNP: rs773381538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365978 SCV001562264 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1559 of the MYO7A protein (p.Ser1559Phe). This variant is present in population databases (rs773381538, gnomAD 0.0009%). 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: 1057061). 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) 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. RCV001826046 SCV002088464 uncertain significance Usher syndrome type 1B 2020-07-20 no assertion criteria provided clinical testing

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