ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1720G>A (p.Glu574Lys)

dbSNP: rs1559200125
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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 RCV003201456 SCV003901658 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.1720G>A (p.E574K) alteration is located in exon 14 (coding exon 13) of the DIS3L2 gene. This alteration results from a G to A substitution at nucleotide position 1720, causing the glutamic acid (E) at amino acid position 574 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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