ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val)

dbSNP: rs971419104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267661 SCV001445884 likely pathogenic Congenital microvillous atrophy 2019-05-02 criteria provided, single submitter clinical testing A heterozygous c.1303G>A (p.Gly435Arg) variant and a heterozygous c.947G>T (p.Gly316Val) variant in the MYO5B gene were detected in this individual. Analysis of the parental samples indicated these variants are in trans configuration (i.e. compound heterozygous). The c.1303G>A (p.Gly435Arg) variant has been previously reported as a heterozygous change in a patient with microvillus inclusion disease (PMID: 20186687). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.1303G>A variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.1303G>A (p.Gly435Arg) variant is classified as Likely Pathogenic.
Aleixo Muise Laboratory, Hospital For Sick Children RCV001267661 SCV005088095 pathogenic Congenital microvillous atrophy 2024-07-05 criteria provided, single submitter research PS1;PM2;PM3;PP3;PP4

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