ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)

gnomAD frequency: 0.00007  dbSNP: rs151180675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309084 SCV000373717 uncertain significance Autosomal recessive osteopetrosis 1 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.
Eurofins Ntd Llc (ga) RCV000598452 SCV000705429 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000598452 SCV001042861 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957582 SCV004767773 likely benign TCIRG1-related condition 2023-09-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000309084 SCV001462935 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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