ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)

gnomAD frequency: 0.00095  dbSNP: rs140191063
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345603 SCV000341073 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000778337 SCV000914534 uncertain significance Autosomal recessive osteopetrosis 1 2018-11-15 criteria provided, single submitter clinical testing The TCIRG1 c.1209G>A (p.Met403Ile) missense variant has been reported in one study in which it was found in one individual with malignant infantile osteopetrosis, presumably in a compound heterozygous state with a nonsense variant (Steward et al. 2004). Control data are unavailable for this variant, which is reported at a frequency of 0.00151 in the European (non-Finnish) population of the Genome Aggregation Database. The evidence for this variant is limited. The p.Met403Ile variant is therefore 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.
Invitae RCV000345603 SCV003267091 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930132 SCV004743709 likely benign TCIRG1-related disorder 2023-03-09 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).

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