ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)

dbSNP: rs1598150539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860527 SCV002241262 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-11-22 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with cone-rod dystrophy (PMID: 30319355). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 846 of the GUCY2D protein (p.Lys846Asn). ClinVar contains an entry for this variant (Variation ID: 812329). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GUCY2D function (PMID: 30319355). 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 disruptive.
Sharon lab, Hadassah-Hebrew University Medical Center RCV002267758 SCV001161102 likely pathogenic Cone-rod dystrophy 2019-06-23 no assertion criteria provided research

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