ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) (rs149591108)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761907 SCV000892126 likely pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000669900 SCV000794699 uncertain significance Limb-girdle muscular dystrophy, type 2A 2017-10-14 criteria provided, single submitter clinical testing
Invitae RCV000669900 SCV000930912 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-07-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 322 of the CAPN3 protein (p.Tyr322His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs149591108, ExAC 0.006%). This variant has been observed in the heterozygous state in an individual affected with limb girdle muscular dystrophy (PMID: 16141003). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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