ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.459+18T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958721 SCV003278867 likely benign Septo-optic dysplasia sequence; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES 2023-04-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801258 SCV005422232 likely benign not specified 2024-10-22 criteria provided, single submitter clinical testing Variant summary: HESX1 c.459+18T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00014 in 250062 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in HESX1 causing HESX1-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.459+18T>C in individuals affected with HESX1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2065769). Based on the evidence outlined above, the variant was classified as likely benign.

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