Submissions for variant NM_000387.6(SLC25A20):c.241G>A (p.Gly81Arg)

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003388421	SCV004099832	likely pathogenic	Carnitine acylcarnitine translocase deficiency	2023-09-14	criteria provided, single submitter	clinical testing	Variant summary: SLC25A20 c.241G>A (p.Gly81Arg) results in a non-conservative amino acid change located in the Mitochondrial substrate/solute carrier repeat (IPR018108) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250142 control chromosomes (gnomAD). c.241G>A has been reported in the literature in at least one individual affected with Carnitine-Acylcarnitine Translocase Deficiency (IJlst_1999, IJlst_2001). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function using a yeast complementation assay; while WT variant could rescue growth, the variant of interest could not, indicating loss of function (IJlst_2001). The following publications have been ascertained in the context of this evaluation (PMID: 10709662, 11162577). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.