ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)

gnomAD frequency: 0.00005  dbSNP: rs114527197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034358 SCV001197699 benign Luscan-Lumish syndrome 2022-07-12 criteria provided, single submitter clinical testing
New York Genome Center RCV001034358 SCV002098970 uncertain significance Luscan-Lumish syndrome 2021-03-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001034358 SCV002495954 uncertain significance Luscan-Lumish syndrome 2022-02-11 criteria provided, single submitter clinical testing SETD2 NM_014159.6 exon 3 p.Met1009Thr (c.3026T>C): This variant has not been reported in the literature but present in 0.01% (7/68030) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/3-47121610-A-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:833850). This variant amino acid Threonine (Thr) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224517 SCV003920465 uncertain significance Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70 2022-02-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature but present in 0.01% (7/68030) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/3 47121610 A G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:833850). This variant amino acid Threonine (Thr) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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