ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) (rs397516338)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172107 SCV000051050 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036266 SCV000059918 likely benign not specified 2014-11-25 criteria provided, single submitter clinical testing p.Gln283Arg in exon 9 of SGCD: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (57/8734) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516338).
Illumina Clinical Services Laboratory,Illumina RCV000404763 SCV000455500 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365095 SCV000455502 likely benign Qualitative or quantitative defects of delta-sarcoglycan 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001084187 SCV000638182 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000584814 SCV000692523 likely benign Familial hypertrophic cardiomyopathy 1 2017-03-16 criteria provided, single submitter research The SGCD Gln283Arg variant is present at high frequency in the Exome Aggregation Consortium dataset and is particularly common in the East Asian population; allele frequency=0.006379 (MAF= 0.0004690, http://exac.broadinstitute.org/). We identified SGCD Gln283Arg in 1 HCM proband with no family history of HCM or SCD. Computational tools PolyPhen-2 and MutationTaster predict the amino acid substitution to be "probably damaging" and "disease-causing" respectively, however SIFT predicts this variant to be "tolerated". In summary, based on the current literature, our limited understanding of the role of SGCD in HCM, and an allele frequency higher than expected for HCM, we classify SGCD Gln283Arg as "likely benign".

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