ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.605-5T>G

gnomAD frequency: 0.00065  dbSNP: rs201406891
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376934 SCV000446377 uncertain significance Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729941 SCV000857644 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729941 SCV001119150 likely benign not provided 2024-03-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987518 SCV004803779 uncertain significance not specified 2025-04-30 criteria provided, single submitter clinical testing Variant summary: POU1F1 c.605-5T>G alters a non-conserved nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: One predicts the variant has no significant impact on splicing. Two predict the variant weakens a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00069 in 227740 control chromosomes, predominantly at a frequency of 0.0015 within the South Asian subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in POU1F1 causing Combined Pituitary Hormone Deficiency (0.00069 vs 0.0068), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.605-5T>G in individuals affected with Combined Pituitary Hormone Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 346840). Based on the evidence outlined above, the variant was classified as uncertain significance.

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