ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val)

gnomAD frequency: 0.00004  dbSNP: rs760334377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176225 SCV000227842 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV001352198 SCV001546735 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2020-02-22 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 195617). This variant is present in population databases (rs760334377, ExAC 0.02%). This sequence change replaces alanine with valine at codon 1126 of the RPGRIP1 protein (p.Ala1126Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Genome-Nilou Lab RCV001800512 SCV002045503 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800513 SCV002045514 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362709 SCV004080110 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.3377C>T (p.A1126V) alteration is located in exon 21 (coding exon 21) of the RPGRIP1 gene. This alteration results from a C to T substitution at nucleotide position 3377, causing the alanine (A) at amino acid position 1126 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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