ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys)

gnomAD frequency: 0.00199  dbSNP: rs113803353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001146069 SCV001306783 likely benign Microcytic anemia 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
PreventionGenetics, part of Exact Sciences RCV003405354 SCV004116050 uncertain significance TMPRSS6-related disorder 2023-05-26 criteria provided, single submitter clinical testing The TMPRSS6 c.334C>T variant is predicted to result in the amino acid substitution p.Arg112Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.57% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-37494485-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546652 SCV004263894 likely benign not provided 2025-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003546652 SCV005206405 likely benign not provided criteria provided, single submitter not provided

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