ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.672-3T>C

gnomAD frequency: 0.00004  dbSNP: rs534705079
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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 RCV001036394 SCV001199755 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2020-07-25 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant has not been reported in the literature in individuals with OXCT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 835501). This variant is present in population databases (rs534705079, ExAC 0.05%). This sequence change falls in intron 6 of the OXCT1 gene. It does not directly change the encoded amino acid sequence of the OXCT1 protein, but it affects a nucleotide within the consensus splice site of the intron.
PreventionGenetics, part of Exact Sciences RCV003898042 SCV004710643 likely benign OXCT1-related disorder 2021-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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