ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) (rs547818652)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723533 SCV000331266 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000260683 SCV000743661 pathogenic Severe autosomal recessive muscular dystrophy of childhood - North African type 2014-10-08 criteria provided, single submitter clinical testing
Invitae RCV000260683 SCV001224332 pathogenic Severe autosomal recessive muscular dystrophy of childhood - North African type 2020-05-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 194 of the SGCG protein (p.Leu194Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs547818652, ExAC 0.01%). This variant has been observed to be homozygous in several individuals affected with with limb girdle muscular dystrophy (LGMD) and to segregate with disease in a large family (PMID: 9673983, 19770540). This variant is also known as p.Leu193Ser in the literature. ClinVar contains an entry for this variant (Variation ID: 281085). This variant has been reported to affect SGCG protein function (PMID: 22095924). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000723533 SCV001449856 likely pathogenic not provided 2016-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000260683 SCV000789520 likely pathogenic Severe autosomal recessive muscular dystrophy of childhood - North African type 2017-02-03 no assertion criteria provided clinical testing

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