ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)

gnomAD frequency: 0.00003  dbSNP: rs200352879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486056 SCV002801363 uncertain significance Combined malonic and methylmalonic acidemia 2022-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002486056 SCV003444309 uncertain significance Combined malonic and methylmalonic acidemia 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 318 of the ACSF3 protein (p.Arg318His). This variant is present in population databases (rs200352879, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. ClinVar contains an entry for this variant (Variation ID: 991082). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001279226 SCV001466309 uncertain significance Methylmalonic acidemia 2020-08-31 no assertion criteria provided clinical testing

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