ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) (rs199806879)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000354372 SCV000796315 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2017-12-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727197 SCV000343724 likely pathogenic not provided 2016-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763349 SCV000894039 likely pathogenic Limb-girdle muscular dystrophy, type 2A; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000354372 SCV000828734 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 606 of the CAPN3 protein (p.Ser606Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs199806879, ExAC 0.01%). This variant has been observed in the homozygous state to segregate with limb-girdle muscular dystrophy (LGMD) in a family (PMID: 15843148), and in combination with another CAPN3 variant in several individuals affected with LGMD (PMID: 9150160, 11245732, 15689361, 16141003). ClinVar contains an entry for this variant (Variation ID: 289372). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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