ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.2330del (p.Gly777fs)

dbSNP: rs1568025953
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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 RCV003560892 SCV004297843 pathogenic not provided 2024-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly777Aspfs*6) in the MYO5B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO5B are known to be pathogenic (PMID: 18724368, 20186687). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with microvillus inclusion disease (PMID: 21206382). ClinVar contains an entry for this variant (Variation ID: 1686967). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002248434 SCV002520534 pathogenic Congenital microvillous atrophy 2022-05-20 no assertion criteria provided literature only

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