ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.4168C>T (p.Gln1390Ter)

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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 RCV003079222 SCV003461959 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of MYO5B-related conditions (PMID: 29266534). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1390*) 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).
Aleixo Muise Laboratory, Hospital For Sick Children RCV004999862 SCV005088087 pathogenic Congenital microvillous atrophy 2024-07-05 criteria provided, single submitter research PVS1;PM2;PM3;PM5;PP3;PP4

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