ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3298C>G (p.Pro1100Ala)

gnomAD frequency: 0.00001  dbSNP: rs763284520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514511 SCV000610013 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514511 SCV003249098 benign not provided 2024-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965523 SCV005529520 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.3298C>G (p.P1100A) alteration is located in exon 19 (coding exon 19) of the AUTS2 gene. This alteration results from a C to G substitution at nucleotide position 3298, causing the proline (P) at amino acid position 1100 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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