ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001095735 SCV001251576 uncertain significance Posterior column ataxia-retinitis pigmentosa syndrome 2020-01-14 criteria provided, single submitter clinical testing The FLVCR1 c.1019C>T (p.Thr340Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Thr340Ile variant is reported at a frequency of 0.00001764 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Thr340Ile variant is classified as a variant of unknown significance for posterior column ataxia with retinitis pigmentosa.

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