ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)

dbSNP: rs987512823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771599 SCV002003544 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477987 SCV002797147 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002540552 SCV003270535 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 177 of the RPGRIP1L protein (p.Gly177Asp). 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: 1314368). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV004040284 SCV005015377 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.530G>A (p.G177D) alteration is located in exon 5 (coding exon 4) of the RPGRIP1L gene. This alteration results from a G to A substitution at nucleotide position 530, causing the glycine (G) at amino acid position 177 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733376 SCV005356110 uncertain significance RPGRIP1L-related disorder 2024-04-29 no assertion criteria provided clinical testing The RPGRIP1L c.530G>A variant is predicted to result in the amino acid substitution p.Gly177Asp. To our knowledge, this variant has not been reported in the literature or in gnomAD, 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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