ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr)

gnomAD frequency: 0.00014  dbSNP: rs752459708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229101 SCV001401537 uncertain significance Holoprosencephaly sequence 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FOXH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 956321). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXH1 protein function. 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. This variant is present in population databases (rs752459708, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 158 of the FOXH1 protein (p.Ser158Thr).

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