ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser)

dbSNP: rs2493695956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003040375 SCV003353597 pathogenic Long QT syndrome 2022-07-02 criteria provided, single submitter clinical testing This missense change has been observed in individuals with clinical features of long QT syndrome (PMID: 23392653; Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the p.Pro320His amino acid residue in KCNQ1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19540844, 22949429). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 320 of the KCNQ1 protein (p.Pro320Ser).

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