ClinVar Miner

Submissions for variant NM_000219.4:c.[172A>C;176T>C] (rs281865421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244610 SCV001417840 likely pathogenic Long QT syndrome 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces adjacent threonine and leucine with two proline residues at codons 58 and 59 of the KCNE1 protein (p.Thr58_Leu59delinsProPro). This variant is reported as three separate entries in the ExAC population database (c.172A>C, ExAC 0.003%, c.176T>C, 0.003% and c.177G>T, 0.003%). This variant has been observed in an individual with long QT syndrome (PMID: 10973849), and was shown to segregate with Jervell and Lange-Nielsen syndrome (JLNS) in a family (PMID: 9328483). This variant is also known as T59P/L60P in the literature. ClinVar contains an entry for this variant (Variation ID: 13475). This variant has been reported to affect KCNE1 protein function (PMID: 19907016, 11530100). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000014417 SCV000034666 pathogenic Jervell and Lange-Nielsen syndrome 2 1997-11-01 no assertion criteria provided literature only

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