ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2437C>T (p.Leu813Phe) (rs1555997625)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813385 SCV000953744 uncertain significance Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2019-02-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 813 of the AR protein (p.Leu813Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with a partial form of androgen insensitivity syndrome (PMID: 10458483). This variant is also known as p.Leu812Phe in the literature. ClinVar contains an entry for this variant (Variation ID:492797). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000581776 SCV000692164 pathogenic Androgen resistance syndrome 2016-04-25 no assertion criteria provided clinical testing

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