ClinVar Miner

Submissions for variant NM_005630.3(SLCO2A1):c.1022del (p.Val341fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005169606 SCV005803224 pathogenic not provided 2024-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val341Alafs*31) in the SLCO2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLCO2A1 are known to be pathogenic (PMID: 22553128, 23509104). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLCO2A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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