ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.357del (p.Thr120fs)

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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 RCV003587095 SCV004277813 pathogenic Neu-Laxova syndrome 2 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr120Leufs*2) in the PSAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PSAT1 are known to be pathogenic (PMID: 17436247, 25152457). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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