ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2440-6_2440-3del

dbSNP: rs1555423426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665569 SCV000789715 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310747 SCV001500665 likely pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665569 SCV002187265 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-19 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the CAPN3 gene. It does not directly change the encoded amino acid sequence of the CAPN3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 16141003, 17702496). ClinVar contains an entry for this variant (Variation ID: 550740). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Medical Molecular Genetics Department, National Research Center RCV000665569 SCV005397142 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-08-11 criteria provided, single submitter clinical testing By applying ACMG guidelines: According to insilico studies, the variant is classified as deleterious (PP3),our study patient’s clinical phenotype is typically correlated to the disease (PP4), it showed an extremely low frequency in gnomAD population databases (PS4) Reputable source recently reports variant as pathogenic , but the evidence is not available to the laboratory to perform an independent evaluation (PP5) so according to ACMG guidlines it is classified as likely pathogenic.

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