ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.88T>C (p.Cys30Arg) (rs121918083)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000014386 SCV000696637 likely pathogenic Amyloidogenic transthyretin amyloidosis 2016-04-05 criteria provided, single submitter clinical testing Variant Summary: The c.88T>C variant involves the alteration of a conserved nucleotide and 4/4 in silico tools predict a pathogenic outcome. The variant, also known as Cys10Arg, involves the only free Cysteine in TTR and is hypothesized to cause structural changes in the heterozygous TTR dimer and tetramer that lead to polymerization of TTR molecules (Uemichi_1992). The variant is absent from the large, broad ExAC control population. The variant was found in multiple affected individuals in the literature, including a family in which all tested affected males carried the variant while three unaffected females also carried the variant, suggesting some role of sex in the occurrence of disease (Uemichi_1992). One clinical lab has classified the variant as "pathogenic". Therefore, taken together, this variant has been classified as Likely Pathogenic.
OMIM RCV000014386 SCV000034635 pathogenic Amyloidogenic transthyretin amyloidosis 1992-12-01 no assertion criteria provided literature only

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