Submissions for variant NM_176795.5(HRAS):c.500dup (p.Pro169fs)

dbSNP: rs35613389

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625815	SCV000746375	uncertain significance	Costello syndrome	2020-05-03	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV003883157	SCV004697871	uncertain significance	Congenital fibrosis of extraocular muscles	2024-02-26	criteria provided, single submitter	curation	The heterozygous c.450+144dup variant in HRAS was identified in 1 individual with congenital fibrosis of extraocular muscles (CFEOM) and cystic hygroma via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Engle lab (https://kirbyneuro.org/EngleLab/). While this gene has a definitive gene-disease association with Costello Syndrome, it is lacking sufficient evidence to establish a gene-disease relationship with CFEOM. We believe this is a possible novel gene candidate for CFEOM. Given the limited information about this gene-disease relationship, the significance of the c.450+144dup variant is uncertain. If you have any additional information about functional evidence or other individuals with this phenotype that also have variants in HRAS we encourage you to reach out to the Engle Lab ([e-mail]).