ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.43_60+9del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003060182 SCV003448149 likely pathogenic Neu-Laxova syndrome 2 2023-12-12 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 1 (c.43_60+9del) of the PSAT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PSAT1 are known to be pathogenic (PMID: 17436247, 25152457). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2140707). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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