ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2878G>A (p.Ala960Thr)

dbSNP: rs35810926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906084 SCV002161524 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-15 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1397315). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs35810926, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 960 of the RPGRIP1 protein (p.Ala960Thr).
Ambry Genetics RCV002555253 SCV003577524 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.2878G>A (p.A960T) alteration is located in exon 17 (coding exon 17) of the RPGRIP1 gene. This alteration results from a G to A substitution at nucleotide position 2878, causing the alanine (A) at amino acid position 960 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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