ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) (rs104894422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000002083 SCV000893320 likely pathogenic Severe autosomal recessive muscular dystrophy of childhood - North African type 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000002083 SCV000634392 pathogenic Severe autosomal recessive muscular dystrophy of childhood - North African type 2017-03-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 283 of the SGCG protein (p.Cys283Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (rs104894422, ExAC no frequency). This variant is clearly defined as a limb-girdle muscular dystrophy type 2C causative allele (PMID: 8968757, 22095924, 9781048). It is also a well-known founder mutation in the Roma population (PMID: 10447257, 15322984). Experimental studies have shown that this missense change leads to ER retention and protein mislocalization in vitro (PMID: 22095924). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002083 SCV000022241 pathogenic Severe autosomal recessive muscular dystrophy of childhood - North African type 2004-11-01 no assertion criteria provided literature only

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