ClinVar Miner

Submissions for variant NM_198834.3(ACACA):c.2971C>T (p.Arg991Trp)

gnomAD frequency: 0.00019  dbSNP: rs200184474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957482 SCV002204697 uncertain significance not provided 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 954 of the ACACA protein (p.Arg954Trp). This variant is present in population databases (rs200184474, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ACACA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425740). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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