ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.646A>G (p.Met216Val)

gnomAD frequency: 0.00002  dbSNP: rs757531583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001137400 SCV001297334 benign Hemochromatosis type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001137400 SCV003276678 uncertain significance Hemochromatosis type 4 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 216 of the SLC40A1 protein (p.Met216Val). This variant is present in population databases (rs757531583, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC40A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 895346). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003163298 SCV003871361 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.646A>G (p.M216V) alteration is located in exon 6 (coding exon 6) of the SLC40A1 gene. This alteration results from a A to G substitution at nucleotide position 646, causing the methionine (M) at amino acid position 216 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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