ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) (rs149931573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196533 SCV000251038 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing The K51I missense change has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Lysine residue is replaced by an uncharged Isoleucine residue. This change occurs at a position in the ACAD9 protein that is not conserved. In-silico analyses are not consistent as to whether or not K51I is expected to be damaging to the ACAD9 protein. Therefore, based on the currently available information it is unclear whether K51I is a disease-causing pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000259644 SCV000440753 uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of 2016-06-14 criteria provided, single submitter clinical testing

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