ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn)

gnomAD frequency: 0.00001  dbSNP: rs753603407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001420133 SCV002391136 likely benign Hemochromatosis type 4 2023-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416140 SCV004117567 uncertain significance SLC40A1-related disorder 2023-04-19 criteria provided, single submitter clinical testing The SLC40A1 c.689C>A variant is predicted to result in the amino acid substitution p.Thr230Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.16% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-190430151-G-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.
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital RCV001420133 SCV001445853 likely pathogenic Hemochromatosis type 4 2020-07-01 no assertion criteria provided clinical testing

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