Submissions for variant NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)

gnomAD frequency: 0.00001  dbSNP: rs774962204

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000390253	SCV000480844	uncertain significance	PSAT deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001861350	SCV002197660	uncertain significance	Neu-Laxova syndrome 2	2022-07-27	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 15 of the PSAT1 protein (p.Ala15Pro). This variant is present in population databases (rs774962204, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of PSAT1-related conditions (PMID: 34089226). ClinVar contains an entry for this variant (Variation ID: 367451). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on PSAT1 function (PMID: 32077105). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center	RCV001252716	SCV001163859	uncertain significance	Microcephaly		no assertion criteria provided	research
Dudley Research Group, Pacific Northwest Research Institute	RCV001254429	SCV001430407	not provided	not provided		no assertion provided	research
OMIM	RCV000390253	SCV004811989	pathogenic	PSAT deficiency	2024-04-08	no assertion criteria provided	literature only