ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.344G>A (p.Arg115His)

dbSNP: rs104893862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Developmental Genetics Laboratory, Medical College of Wisconsin RCV002293409 SCV002538944 pathogenic Axenfeld-Rieger syndrome type 1 2022-06-23 criteria provided, single submitter research
Ambry Genetics RCV003242963 SCV003952579 likely pathogenic Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing The c.185G>A (p.R62H) alteration is located in exon 4 (coding exon 2) of the PITX2 gene. This alteration results from a G to A substitution at nucleotide position 185, causing the arginine (R) at amino acid position 62 to be replaced by a histidine (H). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration was reported in multiple individuals or families with clinical features of PITX2-related Axenfeld-Rieger syndrome (Xia, 2004; Reis, 2012; Ma, 2020). This amino acid position is highly conserved in available vertebrate species. The p.R62H amino acid is located in the homeodomain. Molecular modeling predicted this alteration would have minor or no impact on the structure of PITX2 (Seifi, 2018). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.
OMIM RCV000008562 SCV000028770 pathogenic Ring dermoid of cornea 2004-12-01 no assertion criteria provided literature only
Eye Genetics Research Group, Children's Medical Research Institute RCV001200039 SCV001370531 pathogenic Anterior segment dysgenesis 2020-03-31 no assertion criteria provided clinical testing

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