ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2767C>T (p.Pro923Ser)

dbSNP: rs572508334
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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 RCV001996967 SCV002227356 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 923 of the RPGRIP1L protein (p.Pro923Ser). This variant is present in population databases (rs572508334, gnomAD 0.004%). 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: 1447892). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1L protein function. 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.
Ambry Genetics RCV004955976 SCV005488036 uncertain significance Inborn genetic diseases 2024-08-05 criteria provided, single submitter clinical testing The c.2767C>T (p.P923S) alteration is located in exon 18 (coding exon 17) of the RPGRIP1L gene. This alteration results from a C to T substitution at nucleotide position 2767, causing the proline (P) at amino acid position 923 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733429 SCV005354533 uncertain significance RPGRIP1L-related disorder 2024-06-18 no assertion criteria provided clinical testing The RPGRIP1L c.2767C>T variant is predicted to result in the amino acid substitution p.Pro923Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% 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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