ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3184A>G (p.Lys1062Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002579721 SCV002931048 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1062 of the ABCC6 protein (p.Lys1062Glu). This variant is present in population databases (rs377653646, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ABCC6-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV005008615 SCV005638857 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-02-13 criteria provided, single submitter clinical testing

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