ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)

dbSNP: rs1966216548
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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 RCV001219728 SCV001391680 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 907 of the RPGRIP1L protein (p.Ala907Ser). 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: 948469). 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.
Fulgent Genetics, Fulgent Genetics RCV002491685 SCV002789083 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833907 SCV002087521 uncertain significance Familial aplasia of the vermis 2021-05-07 no assertion criteria provided clinical testing

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