ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.3705A>G (p.Ile1235Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135555 SCV003810758 uncertain significance not provided 2019-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162197 SCV003872853 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.3705A>G (p.I1235M) alteration is located in exon 24 (coding exon 23) of the HERC2 gene. This alteration results from a A to G substitution at nucleotide position 3705, causing the isoleucine (I) at amino acid position 1235 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003135555 SCV005386308 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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