ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.178del (p.Val60fs)

dbSNP: rs1564012541
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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 RCV000702162 SCV000831003 pathogenic Neu-Laxova syndrome 2 2018-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PSAT1 are known to be pathogenic (PMID: 17436247, 25152457). This variant has not been reported in the literature in individuals with PSAT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val60Cysfs*5) in the PSAT1 gene. It is expected to result in an absent or disrupted protein product.

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