ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.259G>C (p.Gly87Arg)

dbSNP: rs11541799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303075 SCV001492309 likely pathogenic Familial amyloid neuropathy 2022-11-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gly87 amino acid residue in TTR. Other variant(s) that disrupt this residue have been observed in individuals with TTR-related conditions (PMID: 17968690, 22320251), which suggests that this may be a clinically significant amino acid residue. 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 TTR protein function. ClinVar contains an entry for this variant (Variation ID: 1006084). This variant is also known as Gly67Arg. This missense change has been observed in individual(s) with familial transthyretin amyloidosis (PMID: 28802308). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 87 of the TTR protein (p.Gly87Arg).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001303075 SCV001571578 uncertain significance Familial amyloid neuropathy 2020-12-02 no assertion criteria provided clinical testing

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