ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.123C>G (p.Leu41=) (rs200670993)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041401 SCV000065096 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Leu41Leu in Exon 03 of SGCD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.2% (5/3202) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Proj ect (http://evs.gs.washington.edu/EVS;). Leu41Leu in Exon 03 of SGCD (allele fr equency = 0.2%, 5/3202) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725068 SCV000333729 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV001085117 SCV000562854 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001156235 SCV001317722 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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