ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.239A>G (p.Tyr80Cys)

dbSNP: rs863224019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200660 SCV000251503 likely pathogenic not provided 2012-08-21 criteria provided, single submitter clinical testing p.Tyr80Cys (TAT>TGT):c.239 A>G in exon 2 of the FOXRED1 gene (NM_017547.3). The Y80C missense change that is likely disease-causing was identified in the FOXRED1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is semi-conservative in that both Tyrosine and Cysteine are uncharged, polar amino acids, but the introduction of a Cysteine residue could affect disulfide bonds in the FOXRED1 protein. This change occurs at a conserved position in the FOXRED1 protein, and multiple in-silico analysis programs predict that Y80C is damaging to the FOXRED1 protein. Therefore, Y80C is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000200660 SCV003025367 uncertain significance not provided 2022-03-29 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 80 of the FOXRED1 protein (p.Tyr80Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FOXRED1-related conditions. ClinVar contains an entry for this variant (Variation ID: 214443). 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 expected to disrupt FOXRED1 protein function. 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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