ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)

gnomAD frequency: 0.00001  dbSNP: rs750358148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482515 SCV000565299 likely pathogenic not provided 2022-08-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27160483, 27460420, 28041643, 31479088, 32581362, 32795431)
Invitae RCV000482515 SCV004261946 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1243 of the MYO7A protein (p.Pro1243Leu). 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 missense change has been observed in individual(s) with autosomal recessive Usher syndrome (PMID: 27160483, 27460420, 28041643). ClinVar contains an entry for this variant (Variation ID: 418368). 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 80%. For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504890 SCV000599122 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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