ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.2T>G (p.Met1Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003687839 SCV004447400 pathogenic not provided 2023-03-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IHH-related conditions. This variant disrupts a region of the IHH protein in which other variant(s) (p.Glu58Lys) have been determined to be pathogenic (PMID: 29155992). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This sequence change affects the initiator methionine of the IHH mRNA. The next in-frame methionine is located at codon 103.

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