ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter)

gnomAD frequency: 0.00001  dbSNP: rs374232191
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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 RCV001939436 SCV002231179 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y 2024-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser50*) in the TOR1AIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TOR1AIP1 are known to be pathogenic (PMID: 24856141, 27342937). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TOR1AIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1454229). For these reasons, this variant has been classified as Pathogenic.

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