ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1180G>C (p.Asp394His)

dbSNP: rs1198693569
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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 RCV001879566 SCV002137798 uncertain significance Pitt-Hopkins syndrome 2022-06-13 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 has not been reported in the literature in individuals affected with TCF4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 394 of the TCF4 protein (p.Asp394His).
Ambry Genetics RCV002552165 SCV003564159 uncertain significance Inborn genetic diseases 2021-06-04 criteria provided, single submitter clinical testing The c.1180G>C (p.D394H) alteration is located in exon 15 (coding exon 14) of the TCF4 gene. This alteration results from a G to C substitution at nucleotide position 1180, causing the aspartic acid (D) at amino acid position 394 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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