ClinVar Miner

Submissions for variant NM_145064.3(STAC3):c.763_766del (p.Leu255fs)

dbSNP: rs773050511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000677632 SCV002204386 pathogenic Bailey-Bloch congenital myopathy 2024-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu255Ilefs*58) in the STAC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAC3 are known to be pathogenic (PMID: 28411587, 28777491). This variant is present in population databases (rs773050511, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with STAC3-related conditions (PMID: 28777491). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 559850). 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 RCV000677632 SCV000803761 pathogenic Bailey-Bloch congenital myopathy 2024-07-16 no assertion criteria provided literature only
GeneReviews RCV000677632 SCV000994602 not provided Bailey-Bloch congenital myopathy no assertion provided literature only

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