ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.78T>C (p.Gly26=)

gnomAD frequency: 0.00002  dbSNP: rs779457244
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420170 SCV000524896 likely benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002418281 SCV002678124 likely benign Cardiovascular phenotype 2022-01-26 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 RCV002506044 SCV002807036 likely benign Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 2022-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003626621 SCV004456918 likely benign Amyloidosis, hereditary systemic 1 2023-11-17 criteria provided, single submitter clinical testing

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