ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr)

dbSNP: rs201621364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001267693 SCV001445942 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2020-11-16 criteria provided, single submitter curation The heterozygous p.Ala230Thr variant in ECHS1 was identified by our study in the compound heterozygous state, along with another variant of uncertain significance, in 1 individual with mitochondrial short-chain enoyl-coa hydratase 1 deficiency. The variant has not been previously reported in individuals with mitochondrial short-chain enoyl coa hydratase 1 deficiency and was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the variant is uncertain. ACMG/AMP Criteria applied: PM2 (Richards 2015).

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