ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2080G>A (p.Glu694Lys)

dbSNP: rs1229220724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949758 SCV002203261 benign Kleefstra syndrome 1 2024-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975904 SCV005576864 uncertain significance Inborn genetic diseases 2024-11-15 criteria provided, single submitter clinical testing The c.2080G>A (p.E694K) alteration is located in exon 13 (coding exon 13) of the EHMT1 gene. This alteration results from a G to A substitution at nucleotide position 2080, causing the glutamic acid (E) at amino acid position 694 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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