ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002467479 SCV002762848 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2021-09-01 criteria provided, single submitter research A heterozygous missense variation in exon 9 of the AUTS2 gene that results in the amino acid substitution of Arginine for Glycine at codon 511 was detected. The observed variant c.1531G>A (p.Gly511Arg) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. Segregation analysis showed the variant to be de novo. In summary, the variant meets our criteria to be classified as pathogenic.
GeneDx RCV003222432 SCV003918344 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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