ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.310-148390G>C

dbSNP: rs1787711433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839121 SCV002099036 uncertain significance Autism spectrum disorder due to AUTS2 deficiency 2021-03-05 criteria provided, single submitter clinical testing The de novo c.310-148390G>C variant identified in the AUTS2 gene (also called KIAA0442) substitutes a conserved Guanine for Cytosine within intron 1/18 in the canonical transcript (NM_015570). This variant is absent from gnomAD(v3.0), suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms (SpliceAI, Transcript Inferred Pathogenicity (TraP) Score) do not predict this variant to significantly alter splicing. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. While it is de novo and absent in population databases, the lack of additional evidence for its pathogenicity results in its classification as a Variant of Uncertain Significance.

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