ClinVar Miner

Submissions for variant NM_198173.3(GRHL3):c.1469G>A (p.Arg490His)

gnomAD frequency: 0.00058  dbSNP: rs138381915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514417 SCV001722257 benign Van der Woude syndrome 2 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564325 SCV003750763 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.1469G>A (p.R490H) alteration is located in exon 13 (coding exon 13) of the GRHL3 gene. This alteration results from a G to A substitution at nucleotide position 1469, causing the arginine (R) at amino acid position 490 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003940918 SCV004749961 likely benign GRHL3-related disorder 2019-06-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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