ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.703C>T (p.Arg235Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004337959 SCV004065228 uncertain significance not specified 2023-06-16 criteria provided, single submitter clinical testing The c.703C>T (p.R235C) alteration is located in exon 6 (coding exon 6) of the EHHADH gene. This alteration results from a C to T substitution at nucleotide position 703, causing the arginine (R) at amino acid position 235 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003946500 SCV004762465 likely benign EHHADH-related disorder 2021-05-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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