ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306518 SCV002602547 likely pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2022-01-17 criteria provided, single submitter clinical testing NM_000182.4(HADHA):c.1944_1945delGA(N649Ffs*2) is expected to be pathogenic in the context of HADHA-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HADHA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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