ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.4590A>G (p.Ile1530Met)

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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 RCV003135553 SCV003810752 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985287 SCV005603094 uncertain significance Inborn genetic diseases 2024-06-26 criteria provided, single submitter clinical testing The c.4590A>G (p.I1530M) alteration is located in exon 30 (coding exon 29) of the HERC2 gene. This alteration results from a A to G substitution at nucleotide position 4590, causing the isoleucine (I) at amino acid position 1530 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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