ClinVar Miner

Submissions for variant NM_017563.5(IL17RD):c.2204C>T (p.Ala735Val)

gnomAD frequency: 0.00003  dbSNP: rs587776979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043611 SCV000071629 risk factor HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO 2013-05-02 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003894882 SCV004708668 uncertain significance IL17RD-related disorder 2024-02-09 no assertion criteria provided clinical testing The IL17RD c.2204C>T variant is predicted to result in the amino acid substitution p.Ala735Val. This variant has been reported in an individual with Kallmann syndrome who also carries a KISS1R variant (Miraoui et al 2013. PubMed ID: 23643382). This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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