ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2296G>A (p.Ala766Thr)

dbSNP: rs1555996863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791383 SCV000629590 pathogenic Androgen resistance syndrome; Kennedy disease 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects AR function (PMID: 1307250, 9328206, 9856504, 10690872, 15531547). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AR protein function. ClinVar contains an entry for this variant (Variation ID: 458363). This missense change has been observed in individuals with complete androgen insensitivity syndrome (PMID: 1307250, 8723113, 9328206, 9856504, 10690872, 15531547, 15925895, 25248670, 25613104, 27899157). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 766 of the AR protein (p.Ala766Thr).
Clinical Genetics and Genomics, Karolinska University Hospital RCV001270001 SCV001450411 pathogenic not provided 2018-11-05 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000546202 SCV000692159 pathogenic Androgen resistance syndrome 2010-03-26 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001270001 SCV001807256 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001270001 SCV001975783 pathogenic not provided no assertion criteria provided clinical testing

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