ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs754655924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, 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.
GeneDx RCV001760068 SCV001991245 uncertain significance not provided 2023-10-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36917984)
CeGaT Center for Human Genetics Tuebingen RCV001760068 SCV002585178 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing

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