ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=)

gnomAD frequency: 0.00002  dbSNP: rs772878105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000560525 SCV001912323 benign not provided 2021-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060312 SCV002353099 benign Kabuki syndrome 2024-12-24 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224324 SCV003920131 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.004% (2/41430) (https://gnomad.broadinstitute.org/variant/12-49040198-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Benign (Variation ID:463021). Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. However, computational prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000560525 SCV004130762 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004758702 SCV005366217 likely benign KMT2D-related disorder 2024-09-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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