ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.930_931delinsCT (p.Leu311Phe)

dbSNP: rs1746638676
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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 RCV001234000 SCV001406625 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2021-02-08 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of Succinyl CoA:3-oxoacid CoA transferase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 960470). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces leucine with phenylalanine at codon 311 of the OXCT1 protein (p.Leu311Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.

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