ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1876A>T (p.Asn626Tyr)

dbSNP: rs1882869988
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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 RCV001314788 SCV001505336 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 626 of the RPGRIP1 protein (p.Asn626Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Leber congenital amaurosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 1015868). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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