ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.2741_2741+1delinsAA

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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 RCV005251509 SCV005902191 likely pathogenic Keratosis follicularis 2024-07-12 criteria provided, single submitter clinical testing An ATP2A2 c.2741_2741+1delinsAA variant was identified at an allelic fraction consistent with somatic origin. This variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.4.1.0), indicating it is not a common variant. The ATP2A2 c.2741_2741+1delinsAA variant is a dinucleotide substitution that occurs at the last base of the exon and the first base of the canonical splice donor site, which is expected to result in abnormal splicing. A similar variant within this specific canonical splice donor site ATP2A2 c.2741+1G>T has been reported in an individual affected with Darier disease (Green EK et al., PMID: 23356892; Gordon-Smith K et al., PMID: 30345710). Based on available information and an internally developed protocol informed by the ACMG/AMP guidelines for variant interpretation (Leon-Quintero FZ et al., PMID: 39434542), the ATP2A2 c.2741_2741+1delinsAA variant is classified as likely pathogenic.

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