ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu)

dbSNP: rs145671325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143697 SCV003834538 uncertain significance Autism spectrum disorder due to AUTS2 deficiency 2021-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004963576 SCV005531616 uncertain significance Inborn genetic diseases 2024-10-28 criteria provided, single submitter clinical testing The c.3419G>T (p.R1140L) alteration is located in exon 19 (coding exon 19) of the AUTS2 gene. This alteration results from a G to T substitution at nucleotide position 3419, causing the arginine (R) at amino acid position 1140 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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