ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.696G>A (p.Val232=)

gnomAD frequency: 0.00097  dbSNP: rs140331840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884272 SCV001027639 benign Neu-Laxova syndrome 2 2025-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712929 SCV005266955 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541791 SCV004777789 likely benign PSAT1-related disorder 2020-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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