ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys)

gnomAD frequency: 0.00001  dbSNP: rs527236047
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000132639 SCV002298090 uncertain significance not provided 2023-05-20 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine 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: 143118). This missense change has been observed in individual(s) with angioid streaks (PMID: 19284998). This variant is present in population databases (rs527236047, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 587 of the ABCC6 protein (p.Ser587Cys).
Fulgent Genetics, Fulgent Genetics RCV002505116 SCV002815815 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2022-04-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000132639 SCV005194257 uncertain significance not provided criteria provided, single submitter not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132639 SCV000172590 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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