ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser)

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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 RCV001075851 SCV001241490 uncertain significance Retinal dystrophy 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV001303824 SCV001493084 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 185 of the FLVCR1 protein (p.Cys185Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs747064078, ExAC 0.03%). 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 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.

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