ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.405C>G (p.Ser135=)

gnomAD frequency: 0.00003  dbSNP: rs760153126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468263 SCV000554850 likely benign Amyloidosis, hereditary systemic 1 2024-10-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798844 SCV002042744 likely benign Cardiomyopathy 2020-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323763 SCV002631943 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.

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