ClinVar Miner

Submissions for variant NM_007180.3(TREH):c.1696C>T (p.His566Tyr)

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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 RCV004197675 SCV003687332 uncertain significance not specified 2022-09-26 criteria provided, single submitter clinical testing The c.1696C>T (p.H566Y) alteration is located in exon 15 (coding exon 15) of the TREH gene. This alteration results from a C to T substitution at nucleotide position 1696, causing the histidine (H) at amino acid position 566 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003954014 SCV004768208 likely benign TREH-related disorder 2020-02-04 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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