ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)

gnomAD frequency: 0.00006  dbSNP: rs200151282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288601 SCV001475852 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001288601 SCV001961162 likely pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288601 SCV003269748 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 341 of the FLVCR1 protein (p.Tyr341Cys). This variant is present in population databases (rs200151282, gnomAD 0.008%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 31884612). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 994874). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001288601 SCV004031839 uncertain significance not provided 2023-08-19 criteria provided, single submitter clinical testing 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: 31884612, 35055178, 29192808, 34931442)

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