ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg)

gnomAD frequency: 0.00003  dbSNP: rs139246920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315408 SCV001505979 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1307 of the RPGRIP1L protein (p.Lys1307Arg). This variant is present in population databases (rs139246920, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1016406). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001830292 SCV002087485 uncertain significance Familial aplasia of the vermis 2020-12-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733249 SCV005357299 uncertain significance RPGRIP1L-related disorder 2024-02-29 no assertion criteria provided clinical testing The RPGRIP1L c.3920A>G variant is predicted to result in the amino acid substitution p.Lys1307Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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