ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.119G>C (p.Ser40Thr)

gnomAD frequency: 0.00001  dbSNP: rs988801509
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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 RCV003553264 SCV004268148 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 40 of the POU3F4 protein (p.Ser40Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POU3F4-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004661680 SCV005150753 uncertain significance Inborn genetic diseases 2024-04-29 criteria provided, single submitter clinical testing The c.119G>C (p.S40T) alteration is located in exon 1 (coding exon 1) of the POU3F4 gene. This alteration results from a G to C substitution at nucleotide position 119, causing the serine (S) at amino acid position 40 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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