ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003643519 SCV004563471 uncertain significance Combined malonic and methylmalonic acidemia 2023-10-20 criteria provided, single submitter clinical testing The ACSF3 c.1016T>C; p.Val339Ala variant (rs768294145), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.004% (8/282,676 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.263). Due to limited information, the clinical significance of this variant is uncertain at this time.

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