ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3310C>T (p.Pro1104Ser)

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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 RCV003786500 SCV004570596 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-05-15 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 1104 of the RPGRIP1L protein (p.Pro1104Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. 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 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.
Fulgent Genetics, Fulgent Genetics RCV005014957 SCV005639894 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-02-14 criteria provided, single submitter clinical testing

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