ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg)

gnomAD frequency: 0.00003  dbSNP: rs1209940471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335748 SCV001528977 uncertain significance Arterial calcification, generalized, of infancy, 2 2018-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002486341 SCV002785804 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651591 SCV005148082 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.469G>A (p.G157R) alteration is located in exon 4 (coding exon 4) of the ABCC6 gene. This alteration results from a G to A substitution at nucleotide position 469, causing the glycine (G) at amino acid position 157 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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