ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)

gnomAD frequency: 0.00001  dbSNP: rs764832127
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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 RCV001992407 SCV002223833 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1273 of the RPGRIP1L protein (p.Ile1273Thr). This variant is present in population databases (rs764832127, gnomAD 0.003%). 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: 1444639). 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: "Benign"; 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 RCV002492071 SCV002800105 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562897 SCV003758075 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.3818T>C (p.I1273T) alteration is located in exon 26 (coding exon 25) of the RPGRIP1L gene. This alteration results from a T to C substitution at nucleotide position 3818, causing the isoleucine (I) at amino acid position 1273 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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