ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.1067del (p.Ala356fs)

dbSNP: rs2147577444
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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 RCV001918581 SCV002187185 pathogenic not provided 2024-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala356Valfs*12) in the PLS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLS3 are known to be pathogenic (PMID: 24088043, 30405713, 33166085). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1407720). For these reasons, this variant has been classified as Pathogenic.

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