ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr)

dbSNP: rs2856597
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002475996 SCV002782748 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456402 SCV004184542 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing ABCC6: PP2, BP4
PXE International RCV000499196 SCV000589205 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-04 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004737571 SCV005350645 uncertain significance ABCC6-related disorder 2024-09-21 no assertion criteria provided clinical testing The ABCC6 c.232G>A variant is predicted to result in the amino acid substitution p.Ala78Thr. This variant was previously reported in a large cohort of individuals with pseudoxanthoma elasticum, although no detailed clinical or genetic information was provided (Jin et al. 2015. PubMed ID: 25615550). This variant was also reported in an individual with Tetralogy of Fallot (Pan et al. 2022. PubMed ID: 36071769). This variant is reported in 0.53% of alleles in individuals of East Asian descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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