ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.408T>C (p.Tyr136=)

gnomAD frequency: 0.00001  dbSNP: rs1454790119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507153 SCV000605511 benign not specified 2017-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323872 SCV002629307 likely benign Cardiovascular phenotype 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002496972 SCV002809176 likely benign Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 2022-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766885 SCV004621106 likely benign Amyloidosis, hereditary systemic 1 2023-11-01 criteria provided, single submitter clinical testing

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