ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.244G>A (p.Glu82Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003734681 SCV004539091 pathogenic not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 82 of the MYO5B protein (p.Glu82Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive microvillus inclusion disease (PMID: 28407399, 32304554). It has also been observed to segregate with disease in related individuals. 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 MYO5B protein function. For these reasons, this variant has been classified as Pathogenic.

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