ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2612C>T (p.Ala871Val) (rs143040492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687621 SCV000815200 pathogenic Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2018-07-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 871 of the AR protein (p.Ala871Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs143040492, ExAC 0.01%). This variant has been observed in individuals affected with androgen insensitivity syndrome (PMID: 8723113, 28261839, 20305676, 8033918). The variant is also known as p.Ala870Val in the literature. ClinVar contains an entry for this variant (Variation ID: 492801). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Variants that disrupt the p.Ala871 amino acid residue in AR have been observed in affected individuals (PMID: 8723113, 9332480, 7981687). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582850 SCV000692173 pathogenic Androgen resistance syndrome 2003-09-05 no assertion criteria provided clinical testing

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