ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1814A>G (p.Asp605Gly)

dbSNP: rs1555990478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002530822 SCV003445247 uncertain significance Androgen resistance syndrome; Kennedy disease 2022-10-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 492784). This missense change has been observed in individual(s) with complete androgen insensitivity syndrome (PMID: 26778393). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 605 of the AR protein (p.Asp605Gly).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584497 SCV000692149 uncertain significance Androgen resistance syndrome 2015-03-17 no assertion criteria provided clinical testing

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