ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)

gnomAD frequency: 0.00019  dbSNP: rs72650699
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413373 SCV000490388 pathogenic not provided 2022-11-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 17617515, 11536079, 11702217, 22090377, 34205333, 34906475, 28912966, 25525159, 12673275, 23978319, 22522722, 11692167, 11474653, 15459974, 25367056, 26705105, 30537162, 34440381, 31589614, 35261845, 27535533)
Fulgent Genetics, Fulgent Genetics RCV002481268 SCV002794055 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-03-12 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000499037 SCV004809402 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2024-04-04 criteria provided, single submitter clinical testing
PXE International RCV000499037 SCV000588949 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-12 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004530507 SCV004726592 pathogenic ABCC6-related disorder 2024-01-04 no assertion criteria provided clinical testing The ABCC6 c.1132C>T variant is predicted to result in premature protein termination (p.Gln378*). This variant has been reported in individuals with pseudoxanthoma elasticum (PXE) (Cai et al. 2001. PubMed ID: 11692167; Katagiri et al. 2017. PubMed ID: 28912966; Mitre et al. 2018. PubMed ID: 30537162; Boraldi et al. 2021. PubMed ID: 34205333; Jin et al. 2021. PubMed ID: 34440381). However, this variant also localizes to the ABCC6P1 pseudogene and may be transferred to the native ABCC6 gene through gene conversion in some individuals (Cai et al. 2001. PubMed ID: 11692167; Casola. 2012. PubMed ID: 22090377; Katagiri et al. 2017. PubMed ID: 28912966).This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. However, this variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. Nonsense variants in ABCC6 are expected to be pathogenic. This variant is interpreted as pathogenic.

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