ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) (rs551541795)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551044 SCV000645070 uncertain significance Koolen-de Vries syndrome 2020-07-08 criteria provided, single submitter clinical testing Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. If the variant occurs in the KANSL1 gene, this sequence change creates a premature translational stop signal (p.Leu270Valfs*11) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has been observed in individual(s) with neurological and developmental disorders (PMID: 30293248, 31278258). ClinVar contains an entry for this variant (Variation ID: 468412). Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). If this variant occurs in KANSL1, it is expected to be pathogenic. However, due to the uncertainty of the location of this sequence change, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093449 SCV001250442 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266716 SCV001444893 likely pathogenic Inborn genetic diseases 2018-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000551044 SCV001529643 pathogenic Koolen-de Vries syndrome 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
PerkinElmer Genomics RCV000551044 SCV002016761 likely pathogenic Koolen-de Vries syndrome 2021-01-25 no assertion criteria provided clinical testing

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