ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn)

dbSNP: rs1568006217
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755707 SCV000883162 likely pathogenic Intellectual disability, autosomal dominant 57 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Mental retardation, autosomal dominant 57. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/29861108). PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (https://www.uniprot.org/uniprot/Q86UE8).

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