ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479578 SCV004223013 uncertain significance not specified 2023-11-21 criteria provided, single submitter clinical testing Variant summary: POU3F4 c.359C>A (p.Pro120Gln) results in a non-conservative amino acid change located in the POU-specific domain (IPR000327) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.2e-05 in 178362 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.359C>A in individuals affected with Nonsyndromic Hearing Loss And Deafness, X-Linked 2 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003549106 SCV004270660 benign not provided 2023-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364825 SCV005007612 uncertain significance Inborn genetic diseases 2022-12-23 criteria provided, single submitter clinical testing The c.359C>A (p.P120Q) alteration is located in exon 1 (coding exon 1) of the POU3F4 gene. This alteration results from a C to A substitution at nucleotide position 359, causing the proline (P) at amino acid position 120 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003919246 SCV004729152 likely benign POU3F4-related disorder 2023-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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