ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) (rs369784333)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597389 SCV000700630 likely pathogenic not provided 2017-11-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000597389 SCV001500662 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Invitae RCV000673077 SCV001581101 pathogenic Limb-girdle muscular dystrophy, type 2A 2020-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 214 of the CAPN3 protein (p.Gly214Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs369784333, ExAC 0.01%). This variant has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 19556129, 25135358, 30919934). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 496915). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000673077 SCV000798245 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2018-03-08 no assertion criteria provided clinical testing

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