Submissions for variant NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)

gnomAD frequency: 0.00071  dbSNP: rs149692526

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872021	SCV001013769	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151993	SCV001313185	likely benign	Fraser syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago	RCV001817014	SCV002067667	uncertain significance	not specified	2018-11-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002539970	SCV003749941	uncertain significance	Inborn genetic diseases	2024-01-03	criteria provided, single submitter	clinical testing	The c.9296G>A (p.R3099Q) alteration is located in exon 61 (coding exon 61) of the FRAS1 gene. This alteration results from a G to A substitution at nucleotide position 9296, causing the arginine (R) at amino acid position 3099 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003930389	SCV004738889	likely benign	FRAS1-related disorder	2019-12-19	no assertion criteria provided	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).