ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2059G>A (p.Val687Met)

gnomAD frequency: 0.00008  dbSNP: rs368806440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585451 SCV000692842 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000585451 SCV002225362 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 687 of the ABCC6 protein (p.Val687Met). This variant is present in population databases (rs368806440, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ABCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 493175). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Institute of Human Genetics, University Hospital Muenster RCV004584396 SCV002506435 uncertain significance See cases 2021-12-15 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3,BP1
Fulgent Genetics, Fulgent Genetics RCV002483559 SCV002786691 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-05-03 criteria provided, single submitter clinical testing

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