ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)

gnomAD frequency: 0.00003  dbSNP: rs754161182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247454 SCV001420877 uncertain significance Combined malonic and methylmalonic acidemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 29 of the ACSF3 protein (p.Ser29Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs754161182, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003263902 SCV003971007 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.86G>C (p.S29T) alteration is located in exon 3 (coding exon 1) of the ACSF3 gene. This alteration results from a G to C substitution at nucleotide position 86, causing the serine (S) at amino acid position 29 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001247454 SCV002089494 uncertain significance Combined malonic and methylmalonic acidemia 2020-09-29 no assertion criteria provided clinical testing

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