ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn)

gnomAD frequency: 0.00002  dbSNP: rs763562241
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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 RCV001237102 SCV001409853 benign Kleefstra syndrome 1 2023-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563880 SCV003742031 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.334G>A (p.D112N) alteration is located in exon 3 (coding exon 3) of the EHMT1 gene. This alteration results from a G to A substitution at nucleotide position 334, causing the aspartic acid (D) at amino acid position 112 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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