ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.259G>A (p.Val87Met)

gnomAD frequency: 0.00004  dbSNP: rs1021031399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769436 SCV002001323 uncertain significance not provided 2021-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489802 SCV002790500 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651716 SCV005142955 uncertain significance Inborn genetic diseases 2024-04-04 criteria provided, single submitter clinical testing The c.259G>A (p.V87M) alteration is located in exon 3 (coding exon 3) of the ABCC6 gene. This alteration results from a G to A substitution at nucleotide position 259, causing the valine (V) at amino acid position 87 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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