ClinVar Miner

Submissions for variant NM_198173.3(GRHL3):c.738C>T (p.Gly246=)

dbSNP: rs886037767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn RCV001847914 SCV000258550 pathogenic Isolated cleft palate 2015-12-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002057047 SCV002496479 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
GeneDx RCV002057047 SCV005079735 uncertain significance not provided 2024-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 31785789, 28714951, 35982159, 35982160, 27018475)
Labcorp Genetics (formerly Invitae), Labcorp RCV005090025 SCV005834145 pathogenic Van der Woude syndrome 2 2024-02-20 criteria provided, single submitter clinical testing This sequence change affects codon 246 of the GRHL3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GRHL3 protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has been observed in individual(s) with GRHL3-related conditions (PMID: 27018475). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 219243). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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