ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu)

gnomAD frequency: 0.00003  dbSNP: rs980820643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224607 SCV002502187 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496165 SCV002775683 uncertain significance Autosomal dominant nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 37 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002224607 SCV004275803 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1678016). This variant has not been reported in the literature in individuals affected with MYO6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 536 of the MYO6 protein (p.Pro536Leu). 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 MYO6 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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