ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3226G>T (p.Val1076Phe)

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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 RCV003082692 SCV003483802 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1076 of the ABCC6 protein (p.Val1076Phe). This variant is present in population databases (rs780909519, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ABCC6-related conditions. 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: "Benign"; 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.
Revvity Omics, Revvity RCV003082692 SCV003824350 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004636659 SCV005139620 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.3226G>T (p.V1076F) alteration is located in exon 23 (coding exon 23) of the ABCC6 gene. This alteration results from a G to T substitution at nucleotide position 3226, causing the valine (V) at amino acid position 1076 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021562 SCV005645739 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-01-22 criteria provided, single submitter clinical testing

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