ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)

dbSNP: rs386833997
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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 RCV002514257 SCV003246482 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 610 of the RPGRIP1L protein (p.His610Pro). This variant is present in population databases (rs386833997, gnomAD 0.003%). This missense change has been observed in individual(s) with Meckel-Gruber syndrome (PMID: 21068128). ClinVar contains an entry for this variant (Variation ID: 56561). 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049974 SCV000082383 probable-pathogenic Meckel syndrome, type 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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