ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) (rs727502851)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668682 SCV000793323 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-08-10 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000668682 SCV000891602 pathogenic Merosin deficient congenital muscular dystrophy 2017-12-30 criteria provided, single submitter curation
Illumina Clinical Services Laboratory,Illumina RCV000779487 SCV000916120 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-11-30 criteria provided, single submitter clinical testing This variant is a stop-gained variant, which was observed by ICSL 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 for this variant, it 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. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.

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