ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.11_13del (p.His4del)

dbSNP: rs747545126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815435 SCV000955888 uncertain significance Amyloidosis, hereditary systemic 1 2023-11-27 criteria provided, single submitter clinical testing This variant, c.11_13del, results in the deletion of 1 amino acid(s) of the TTR protein (p.His4del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs755527537, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 658582). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002487792 SCV002783051 uncertain significance Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 2021-11-11 criteria provided, single submitter clinical testing

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