ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)

gnomAD frequency: 0.00001  dbSNP: rs765863571
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002017095 SCV002300301 benign Kabuki syndrome 2022-11-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395357 SCV004130811 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing KMT2D: PP2, BS2
PreventionGenetics, part of Exact Sciences RCV004538737 SCV004712046 uncertain significance KMT2D-related disorder 2023-12-06 criteria provided, single submitter clinical testing The KMT2D c.3455C>T variant is predicted to result in the amino acid substitution p.Pro1152Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0036% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004641887 SCV005133503 likely benign Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003388082 SCV004099335 uncertain significance Kabuki syndrome 1 2023-10-30 no assertion criteria provided clinical testing

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