ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)

gnomAD frequency: 0.00284  dbSNP: rs201507971
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000121407 SCV000193475 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659757 SCV000781606 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000659757 SCV000898788 uncertain significance Kabuki syndrome 1 2018-12-03 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 31 p.Gly2569Ser (c.7705G>A):This variant has not been reported in the literature but is present in 0.9% (217/24088) of African alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/12-49433848-C-T). This variant is present in ClinVar (Variation ID: 134697). This variant amino acid Serine (Ser) is present in several species; this suggests that this variant may not impact the protein. Computational predictive tools also suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000945876 SCV001091940 benign Kabuki syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001657764 SCV001871813 benign not provided 2019-03-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30459467)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224159 SCV003920119 uncertain significance Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 2021-03-30 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 31 p.Gly2569Ser (c.7705G>A):This variant has not been reported in the literature but is present in 0.9% (217/24088) of African alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/12-49433848-C-T). This variant is present in ClinVar (Variation ID: 134697). This variant amino acid Serine (Ser) is present in several species; this suggests that this variant may not impact the protein. Computational predictive tools also suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
ITMI RCV000121407 SCV000085595 not provided not specified 2013-09-19 no assertion provided reference population

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