ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)

gnomAD frequency: 0.00001  dbSNP: rs541845688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phillips Lab, Hematology, University of Utah RCV001733864 SCV001985011 benign Acute intermittent porphyria 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539842 SCV003029700 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1301997). This variant has not been reported in the literature in individuals affected with ABCB6-related conditions. This variant is present in population databases (rs541845688, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 729 of the ABCB6 protein (p.Gly729Ser).

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