ClinVar Miner

Submissions for variant NM_001378687.1(ATP2C1):c.1818G>T (p.Gln606His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052220 SCV005685271 uncertain significance Familial benign pemphigus 2024-07-16 criteria provided, single submitter clinical testing An ATP2C1 c.1818G>T (p.Gln606His) variant was identified at a near heterozygous allelic fraction of 48.5%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant is observed on 21/1,613,082 alleles in the general population (gnomAD v.4.1.0). Another variant at thi position, ATP2C1 c.1816C>T (p.Gln606*), which results in a premature termination codon, has been reported in an individual with Hailey-Hailey disease (Dobson-Stone C et al., PMID: 11841554). Computational predictors are uncertain as to the impact of this variant on ATP2C1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of the ATP2C1 c.1818G>T (p.Gln606His) variant is uncertain at this time.

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