ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)

dbSNP: rs200145855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034438 SCV001197792 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726418 SCV001962235 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552059 SCV003737417 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.80G>T (p.R27L) alteration is located in exon 2 (coding exon 2) of the HADHA gene. This alteration results from a G to T substitution at nucleotide position 80, causing the arginine (R) at amino acid position 27 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271667 SCV001452970 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-02-13 no assertion criteria provided clinical testing

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