ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly)

gnomAD frequency: 0.00003  dbSNP: rs72653766
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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 RCV001865577 SCV002303575 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 440 of the ABCC6 protein (p.Cys440Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 15459974). ClinVar contains an entry for this variant (Variation ID: 433229). 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 RCV005018840 SCV005645495 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-01-02 criteria provided, single submitter clinical testing
PXE International RCV000499143 SCV000588958 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-16 no assertion criteria provided research

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