ClinVar Miner

Submissions for variant NM_139119.3(YY1AP1):c.-151-161G>C

gnomAD frequency: 0.00003  dbSNP: rs1039294641
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004478551 SCV004981690 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.103G>C (p.E35Q) alteration is located in exon 1 (coding exon 1) of the YY1AP1 gene. This alteration results from a G to C substitution at nucleotide position 103, causing the glutamic acid (E) at amino acid position 35 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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