ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.726C>G (p.Asp242Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135554 SCV003810753 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985288 SCV005603091 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.726C>G (p.D242E) alteration is located in exon 7 (coding exon 6) of the HERC2 gene. This alteration results from a C to G substitution at nucleotide position 726, causing the aspartic acid (D) at amino acid position 242 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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