ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn)

dbSNP: rs886044548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327052 SCV000345358 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV002519346 SCV003197117 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1217 of the RPGRIP1 protein (p.Asp1217Asn). 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 variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290736). 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"). 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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