ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3553G>C (p.Glu1185Gln)

dbSNP: rs766353935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303220 SCV001492460 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-06 criteria provided, single submitter clinical testing 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. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1006215). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1185 of the RPGRIP1 protein (p.Glu1185Gln).

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