ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro)

gnomAD frequency: 0.00002  dbSNP: rs1325184426
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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 RCV001203144 SCV001374294 pathogenic not provided 2024-03-28 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 85 of the MYO7A protein (p.Leu85Pro). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of autosomal recessive Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 934702). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001203144 SCV001793159 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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