ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)

dbSNP: rs2148480016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387848 SCV001588568 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y 2020-03-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser278*) in the TOR1AIP1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TOR1AIP1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TOR1AIP1 are known to be pathogenic (PMID: 4856141, 27342937).
Genome-Nilou Lab RCV001387848 SCV002098674 benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2021-09-10 criteria provided, single submitter clinical testing

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