ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.406G>A (p.Glu136Lys)

gnomAD frequency: 0.00230  dbSNP: rs116310349
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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 RCV001144179 SCV001304759 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002557075 SCV003269801 benign not provided 2023-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413952 SCV004116095 uncertain significance TMPRSS6-related disorder 2023-05-26 criteria provided, single submitter clinical testing The TMPRSS6 c.433G>A variant is predicted to result in the amino acid substitution p.Glu145Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.70% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-37492129-C-T). 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.
Breakthrough Genomics, Breakthrough Genomics RCV002557075 SCV005206404 likely benign not provided criteria provided, single submitter not provided

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