ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)

gnomAD frequency: 0.00001  dbSNP: rs747867189
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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 RCV001307667 SCV001497088 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 337 of the RPGRIP1L protein (p.Ser337Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs747867189, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. 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 C0"). 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 RCV002476416 SCV002790964 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-08 criteria provided, single submitter clinical testing

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