ClinVar Miner

Submissions for variant NM_015355.4(SUZ12):c.439G>C (p.Glu147Gln)

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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 RCV004681772 SCV005166302 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.439G>C (p.E147Q) alteration is located in exon 4 (coding exon 4) of the SUZ12 gene. This alteration results from a G to C substitution at nucleotide position 439, causing the glutamic acid (E) at amino acid position 147 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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