ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)

gnomAD frequency: 0.00001  dbSNP: rs796051970
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185932 SCV000238887 uncertain significance not specified 2013-07-11 criteria provided, single submitter clinical testing The G328R missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative as a small, uncharged Glycine residue is replaced by a large, positively charged Arginine residue. This change occurs at a highly conserved position in the HADHA protein. In-silico analyses are not consistent in their predictions of whether G328R is damaging to the HADHA protein. Therefore, based on the currently available information, it is unclear whether G328R is a disease-causing mutation or a rare benign variant. The variant is found in HADHA panel(s).
Counsyl RCV000674081 SCV000799355 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2018-04-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000185932 SCV002571773 uncertain significance not specified 2024-08-08 criteria provided, single submitter clinical testing Variant summary: HADHA c.982G>A (p.Gly328Arg) results in a non-conservative amino acid change in 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 4e-06 in 251214 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.982G>A has been reported in the literature in one individual affected with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (Djouadi_2016, Schwantje_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26109258, 35383965). ClinVar contains an entry for this variant (Variation ID: 203744). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000674081 SCV002076515 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-07-14 no assertion criteria provided clinical testing

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