ClinVar Miner

Submissions for variant NM_032551.5(KISS1R):c.581C>A (p.Ala194Asp)

gnomAD frequency: 0.00009  dbSNP: rs397514699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514181 SCV003486128 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 194 of the KISS1R protein (p.Ala194Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with hypogonadotropic hypogonadism (PMID: 23643382). ClinVar contains an entry for this variant (Variation ID: 50861). 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) performed at Invitae indicates that this missense variant is not expected to disrupt KISS1R protein function with a negative predictive value of 80%. 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.
OMIM RCV000043601 SCV000071619 risk factor Hypogonadotropic hypogonadism 8 with or without anosmia 2013-05-02 no assertion criteria provided literature only

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