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
Invitae RCV000729941 SCV001119150 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987518 SCV004803779 uncertain significance not specified 2024-01-26 criteria provided, single submitter clinical testing Variant summary: POU1F1 c.605-5T>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 0.00069 in 227740 control chromosomes, predominantly at a frequency of 0.0015 within the South Asian subpopulation in the gnomAD database. To our knowledge, no occurrence of c.605-5T>G in individuals affected with &phenotype& 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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