ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.477C>T (p.Tyr159=)

gnomAD frequency: 0.00001  dbSNP: rs1401194449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342096 SCV001536005 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-10-11 criteria provided, single submitter clinical testing This sequence change affects codon 159 of the CAPN3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CAPN3 protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has been observed in individual(s) with autosomal recessive distal myopathy (PMID: 25783436). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1038748). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 25783436). 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.
Revvity Omics, Revvity RCV003145589 SCV003830573 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001342096 SCV002094447 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-01 no assertion criteria provided clinical testing

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