ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg)

gnomAD frequency: 0.00230  dbSNP: rs202095663
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179619 SCV000231893 likely benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870531 SCV001012035 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517754 SCV003676420 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.9553G>A (p.G3185R) alteration is located in exon 63 (coding exon 63) of the FRAS1 gene. This alteration results from a G to A substitution at nucleotide position 9553, causing the glycine (G) at amino acid position 3185 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000870531 SCV005078442 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Identified in an individual with kidney and urinary tract disease in published literature who also harbored the p.(E2195G) variant on the same allele (in cis) (PMID: 35368817); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35368817)
PreventionGenetics, part of Exact Sciences RCV003927686 SCV004747017 benign FRAS1-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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