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
Labcorp Genetics (formerly Invitae), Labcorp RCV001352198 SCV001546735 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2020-02-22 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs760334377, ExAC 0.02%). 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). 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.
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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