ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr)

gnomAD frequency: 0.00001  dbSNP: rs767107285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266047 SCV001444219 uncertain significance Inborn genetic diseases 2020-01-30 criteria provided, single submitter clinical testing The alteration results in an amino acid change:_x000D_ _x000D_ The c.2162A>C (p.K721T) alteration is located in exon 3 (coding exon 2) of the ASH1L gene. This alteration results from a A to C substitution at nucleotide position 2162, causing the lysine (K) at amino acid position 721 to be replaced by a threonine (T). The alteration is rare in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the ASH1L c.2162A>C alteration was observed in 0.0004% (1/249964) of total alleles studied. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.K721 amino acid is conserved in available vertebrate species. The alteration is predicted inconclusive by in silico modeling:_x000D_ _x000D_ The in silico prediction for the p.K721T alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135908 SCV003825087 uncertain significance Intellectual disability, autosomal dominant 52 2021-03-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003135908 SCV003834931 uncertain significance Intellectual disability, autosomal dominant 52 2021-03-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003135908 SCV004050422 uncertain significance Intellectual disability, autosomal dominant 52 2023-04-11 criteria provided, single submitter clinical testing

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