ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2184+3G>A

gnomAD frequency: 0.00004  dbSNP: rs771917810
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000711015 SCV000339582 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711015 SCV000841333 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332161 SCV001524381 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332161 SCV001541331 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 20 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. This variant is present in population databases (rs771917810, ExAC 0.004%). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 286238). Variants that disrupt 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 is not likely to affect RNA splicing. 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.
Natera, Inc. RCV001332161 SCV002085556 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-03-13 no assertion criteria provided clinical testing

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