ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.376G>A (p.Ala126Thr)

gnomAD frequency: 0.00002  dbSNP: rs377691075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889942 SCV002140445 uncertain significance Holoprosencephaly sequence 2021-07-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs377691075, ExAC 0.03%). This sequence change replaces alanine with threonine at codon 126 of the FOXH1 protein (p.Ala126Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant has not been reported in the literature in individuals affected with FOXH1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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