ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1547G>A (p.Arg516Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379271 SCV001577042 likely pathogenic not provided 2020-08-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 516 of the FLVCR1 protein (p.Arg516Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780752648, ExAC 0.02%). This variant has been observed in individual(s) with posterior column ataxia with retinitis pigmentosa (PMID: 24628582). It has also been observed to segregate with disease in related individuals. 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: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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