ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.379+5G>T

dbSNP: rs886042704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285281 SCV000336060 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000285281 SCV001246425 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Invitae RCV001855130 SCV002254766 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-03-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of autosomal recessive limb-girdle muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 283755). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the CAPN3 gene. It does not directly change the encoded amino acid sequence of the CAPN3 protein. It affects a nucleotide within the consensus splice site of the intron.

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