ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala)

gnomAD frequency: 0.00001  dbSNP: rs762656795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730652 SCV000858404 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001843546 SCV002102795 likely pathogenic Fanconi renotubular syndrome 3 2022-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392568 SCV004119574 uncertain significance EHHADH-related disorder 2023-03-15 criteria provided, single submitter clinical testing The EHHADH c.673C>G variant is predicted to result in the amino acid substitution p.Pro225Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-184922441-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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