ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)

gnomAD frequency: 0.00049  dbSNP: rs59157279
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001475971 SCV001680173 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496919 SCV002805157 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-08-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001475971 SCV002822289 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ABCC6: BP4, BS2
Revvity Omics, Revvity RCV001475971 SCV003824355 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527608 SCV004110608 uncertain significance ABCC6-related disorder 2022-10-30 criteria provided, single submitter clinical testing The ABCC6 c.1540G>A variant is predicted to result in the amino acid substitution p.Val514Ile. This variant has been previously reported in the heterozygous state in an individual with vascular anomalies (Mattassi et al. 2018. PubMed ID: 28655553). This variant has also been identified as a polymorphism in a family with pseudoxanthoma elasticum (Table 2, Miksch. 2005. PubMed ID: 16086317), and it was recently reassessed as likely benign (Verschuere et al. 2021. PubMed ID: 32873932, Supplementary Tables). This variant is reported in 0.31% of alleles in individuals of South Asian descent in gnomAD, including three homozygotes (http://gnomad.broadinstitute.org/variant/16-16284116-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV001475971 SCV005213413 likely benign not provided criteria provided, single submitter not provided
PXE International RCV000499243 SCV000588965 likely benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-02 no assertion criteria provided research

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