ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.946-1G>A

dbSNP: rs80338801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020097 SCV001589423 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-06-30 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 7720071, 17236769, 16650086, 8624690). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21036). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 6 of the CAPN3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 7720071). For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361).
GeneReviews RCV000020097 SCV000040417 not provided Autosomal recessive limb-girdle muscular dystrophy type 2A no assertion provided literature only

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