ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val)

gnomAD frequency: 0.00001  dbSNP: rs778319575
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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 RCV001246534 SCV001419893 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1224 of the RPGRIP1L protein (p.Ile1224Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001835270 SCV002087497 uncertain significance Familial aplasia of the vermis 2021-01-21 no assertion criteria provided clinical testing

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