ClinVar Miner

Submissions for variant NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) (rs200919604)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000495910 SCV000439357 uncertain significance Megaconial type congenital muscular dystrophy 2018-01-12 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.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495910 SCV000583509 likely pathogenic Megaconial type congenital muscular dystrophy 2016-10-27 no assertion criteria provided clinical testing The observed mutation is not reported in 1000 Genomes and ExAC databases. The dbSNP reference number for the observed mutation is rs200919604. The in silico prediction of the mutation is damaging by SIFT and mutation Taster2 and benign by Polyphen2. The proband, born of consanguineous marriage, presented with clinical indications of Congenital muscular dystrophy. Further analysis revealed that he had a homozygous mutation c.940C>T (p.R314C) in exon 9 of CHKB gene. Both parents were found to be heterozygous for the same mutation. The DNA from amniotic fluid during subsequent pregnancy revealed a normal status of the fetus for the same mutation.

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