ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu)

dbSNP: rs771546186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542281 SCV001760964 uncertain significance Autism spectrum disorder due to AUTS2 deficiency 2020-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570651 SCV003497024 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1184289). This variant has not been reported in the literature in individuals affected with AUTS2-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 378 of the AUTS2 protein (p.Val378Leu).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526129 SCV005040013 uncertain significance not specified 2024-03-29 criteria provided, single submitter clinical testing Variant summary: AUTS2 c.1132G>C (p.Val378Leu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250230 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1132G>C in individuals affected with Autism Spectrum Disorder Due To AUTS2 Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1184289). Based on the evidence outlined above, the variant was classified as uncertain significance.

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