ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2771G>A (p.Ser924Asn)

dbSNP: rs142234650
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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 RCV001950150 SCV002206862 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 924 of the RPGRIP1L protein (p.Ser924Asn). This variant is not present in population databases (gnomAD no frequency). 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: 1429708). 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 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.
PreventionGenetics, part of Exact Sciences RCV004542182 SCV004800167 uncertain significance RPGRIP1L-related disorder 2024-01-30 no assertion criteria provided clinical testing The RPGRIP1L c.2771G>A variant is predicted to result in the amino acid substitution p.Ser924Asn. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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