ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)

dbSNP: rs775587493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994239 SCV001147654 likely pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing FLVCR1: PM2, PM3, PS3:Moderate, PP4
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170035 SCV001251759 uncertain significance Posterior column ataxia-retinitis pigmentosa syndrome 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994239 SCV002222361 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 412 of the FLVCR1 protein (p.Gly412Ala). This variant is present in population databases (rs775587493, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FLVCR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 806345). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLVCR1 protein function with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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