ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs551541795
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Total submissions: 7
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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 2021-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics 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].
Mendelics RCV002248770 SCV002517223 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Breda Genetics srl RCV000551044 SCV002586269 likely pathogenic Koolen-de Vries syndrome 2022-06-23 criteria provided, single submitter clinical testing The variant c.808_809del (p.Leu270Valfs*11) in the KANSL1 gene is reported with conflicting interpretations (pathogenic, likely pathogenic, uncertain) in ClinVar for Koolen-de Vries syndrome (Variation ID: 168412) and as likely pathogenic in the LOVD database v.3.0 (genomic variant: #0000795640). The variant c.808_809del (p.Leu270Valfs*11) has been reported as pathogenic by Niar et al. (2018, PMID: 30293248) in a patient with a diagnosis of Koolen-deVries syndrome, which had developmental delay, intellectual disability, hypotony, ptosis, short stature, and ligamentous laxity. The variant creates a shift in the reading frame which is predicted to result in a premature stop codon 11 amino acids downstream, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). The variant is reported with an estimated allele frequency of 0.00002386 in gnomAD exomes and di 0.00003185 in gnomAD genomes with no homozygous individuals reported.
PerkinElmer Genomics RCV000551044 SCV002016761 likely pathogenic Koolen-de Vries syndrome 2021-01-25 no assertion criteria provided clinical testing

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