ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)

gnomAD frequency: 0.00003  dbSNP: rs750446830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493505 SCV002780537 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537889 SCV003520864 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 385 of the RPGRIP1L protein (p.Leu385Arg). This variant is present in population databases (rs750446830, gnomAD 0.06%). 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: 992038). 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: "Probably 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.
Ambry Genetics RCV002541744 SCV003720521 uncertain significance Inborn genetic diseases 2022-01-14 criteria provided, single submitter clinical testing The c.1154T>G (p.L385R) alteration is located in exon 10 (coding exon 9) of the RPGRIP1L gene. This alteration results from a T to G substitution at nucleotide position 1154, causing the leucine (L) at amino acid position 385 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280353 SCV001467529 uncertain significance Familial aplasia of the vermis 2020-08-17 no assertion criteria provided clinical testing

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