ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)

gnomAD frequency: 0.00029  dbSNP: rs63751325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196250 SCV001366805 likely pathogenic Arterial calcification, generalized, of infancy, 2 2019-08-23 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM5,PM1,PP2,PP3,PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001863103 SCV002186004 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1298 of the ABCC6 protein (p.Val1298Ile). This variant is present in population databases (rs63751325, gnomAD 0.1%). This missense change has been observed in individual(s) with vascular anomalies (PMID: 28655553). ClinVar contains an entry for this variant (Variation ID: 930520). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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