ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg)

dbSNP: rs2144897134
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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 RCV002000804 SCV002277484 likely pathogenic Pitt-Hopkins syndrome 2021-02-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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"). This variant has been observed in individual(s) with clinical features of TCF4-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 60 of the TCF4 protein (p.Gly60Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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