ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2017A>G (p.Ile673Val)

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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 RCV003783456 SCV004568702 benign Androgen resistance syndrome; Kennedy disease 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366514 SCV004906685 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.2017A>G (p.I673V) alteration is located in exon 1 (coding exon 1) of the AR gene. This alteration results from a A to G substitution at nucleotide position 2017, causing the isoleucine (I) at amino acid position 673 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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