ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.3G>A (p.Met1Ile)

dbSNP: rs2107566038
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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 RCV001782248 SCV002023460 likely pathogenic Septo-optic dysplasia sequence 2019-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541198 SCV003348404 uncertain significance Septo-optic dysplasia sequence; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES 2022-07-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1324528). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with HESX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the HESX1 mRNA. The next in-frame methionine is located at codon 39.

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