ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)

dbSNP: rs1299639090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222795 SCV001394912 uncertain significance Combined malonic and methylmalonic acidemia 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 97 of the ACSF3 protein (p.Arg97Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of ACSF3-related conditions (Invitae). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001222795 SCV002089499 uncertain significance Combined malonic and methylmalonic acidemia 2021-03-23 no assertion criteria provided clinical testing

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