ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)

gnomAD frequency: 0.00001  dbSNP: rs143655397
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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 RCV002242055 SCV001498451 uncertain significance Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034187 SCV003677496 uncertain significance not specified 2021-06-22 criteria provided, single submitter clinical testing The c.815C>T (p.T272M) alteration is located in exon 5 (coding exon 5) of the EFHC1 gene. This alteration results from a C to T substitution at nucleotide position 815, causing the threonine (T) at amino acid position 272 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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