ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) (rs397508103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003285 SCV000023443 pathogenic Jervell and Lange-Nielsen syndrome 1 1999-02-19 no assertion criteria provided literature only
GeneDx RCV000182287 SCV000234590 not provided not provided no assertion provided clinical testing The c.1892_1911del pathogenic variant in the KCNQ1 gene has been reported in one family with Jervell Lange-Nielsen syndrome (JLNS) (Neyroud et al., 1999). Neyroud et al. reported c.1892_1911del (denoted 1892del20 due to alternate nomenclature) in one family where this variant was paternally inherited; no second variant was identified in the proband. This variant causes a shift in reading frame starting at codon Proline 631, changing it to a Histidine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Pro631HisfsX14. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNQ1 gene have been reported in association with LQTS and JLNS.

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