ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1642G>A (p.Asp548Asn)

gnomAD frequency: 0.00002  dbSNP: rs1223339694
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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 RCV001324862 SCV001515828 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-03-06 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1024650). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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 sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 548 of the RPGRIP1 protein (p.Asp548Asn).

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