ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.350C>G (p.Thr117Ser)

dbSNP: rs374844911
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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 RCV001984686 SCV002207632 benign Kleefstra syndrome 1 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616896 SCV005117346 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.350C>G (p.T117S) alteration is located in exon 3 (coding exon 3) of the EHMT1 gene. This alteration results from a C to G substitution at nucleotide position 350, causing the threonine (T) at amino acid position 117 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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