ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) (rs777785526)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000675173 SCV000373721 uncertain significance Osteopetrosis autosomal recessive 1 2017-04-27 criteria provided, single submitter clinical testing The TCIRG1 c.1297C>T (p.Gln433Ter) is a stop-gained variant that is predicted to result in an elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Gln433Ter variant is reported at a frequency of 0.00009 in the European (non-Finnish) population of the Exome Aggregation Consortium. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Gln433Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for osteopetrosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Counsyl RCV000675173 SCV000800796 pathogenic Osteopetrosis autosomal recessive 1 2017-11-26 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000675173 SCV000845331 pathogenic Osteopetrosis autosomal recessive 1 2018-08-07 criteria provided, single submitter clinical testing

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