ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.544+1G>A

dbSNP: rs1592839705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005251043 SCV005902875 likely pathogenic not provided 2024-09-25 criteria provided, single submitter clinical testing Identified in patients with a clinical diagnosis of Darier disease referred for genetic testing at GeneDx and in published literature (PMID: 10080178); Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 10080178)
OMIM RCV000019369 SCV000039659 pathogenic Keratosis follicularis 1999-03-01 no assertion criteria provided literature only

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