ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro)

gnomAD frequency: 0.00014  dbSNP: rs199982906
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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) RCV000408090 SCV000338226 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing
Invitae RCV001305367 SCV001494697 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 323 of the RPGRIP1 protein (p.Leu323Pro). This variant is present in population databases (rs199982906, gnomAD 0.02%). 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: 285276). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV001800649 SCV002044900 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800650 SCV002044911 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519178 SCV003719147 uncertain significance Inborn genetic diseases 2022-09-29 criteria provided, single submitter clinical testing The c.968T>C (p.L323P) alteration is located in exon 8 (coding exon 8) of the RPGRIP1 gene. This alteration results from a T to C substitution at nucleotide position 968, causing the leucine (L) at amino acid position 323 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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