ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs)

dbSNP: rs1647734130
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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 RCV001232336 SCV001404891 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y 2020-02-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TOR1AIP1-related conditions. This sequence change creates a premature translational stop signal (p.Asp4Glyfs*52) in the TOR1AIP1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Loss-of-function variants in TOR1AIP1 are known to be pathogenic (PMID: 4856141, 27342937). For these reasons, this variant has been classified as Pathogenic.

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