ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073652 SCV001239203 uncertain significance Retinal dystrophy 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV001366519 SCV001562824 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 9 of the FLVCR1 protein (p.Gly9Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with FLVCR1-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 arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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