ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)

gnomAD frequency: 0.00004  dbSNP: rs63751279
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090334 SCV001245823 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506212 SCV002814974 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090334 SCV003280670 uncertain significance not provided 2022-10-17 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 433295). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 17617515). This variant is present in population databases (rs63751279, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1481 of the ABCC6 protein (p.Gly1481Ser).
PXE International RCV000499313 SCV000589031 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000499313 SCV001190813 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2020-02-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004737569 SCV005347322 uncertain significance ABCC6-related disorder 2024-03-12 no assertion criteria provided clinical testing The ABCC6 c.4441G>A variant is predicted to result in the amino acid substitution p.Gly1481Ser. This variant was reported in two individuals with pseudoxanthoma elasticum, although pathogenicity was not established (Pfendner et al. 2007. PubMed ID: 17617515; Table S2, Zheng et al. 2018. PubMed ID: 30056620). This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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