ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys)

dbSNP: rs782293740
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Total submissions: 2
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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 RCV000611363 SCV000712000 uncertain significance not specified 2016-05-10 criteria provided, single submitter clinical testing The p.Asn458Lys variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome; however, a different variant at this amino acid position (p.Asn458Ile) has been previously reported in an individual with autosomal dominant hearing loss that segregated in 8 affected family members (Lu ijendijk 2004). Data from large population studies is insufficient to assess th e frequency of the p.Asn458Lys or the p.Asn458Ile variant. Computational predict ion tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Asn458 Lys variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001294801 SCV001483696 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 504950). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 458 of the MYO7A protein (p.Asn458Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. 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 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.

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