ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)

gnomAD frequency: 0.00285  dbSNP: rs10029227
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178635 SCV000230751 likely benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870530 SCV001012034 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000870530 SCV002586570 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Observed with additional FRAS1 variants (phase unknown) in a patient with focal segmental glomerulosclerosis in published literature (PMID: 31308072); 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, 31308072)
Ambry Genetics RCV002516778 SCV003569074 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.6584A>G (p.E2195G) alteration is located in exon 47 (coding exon 47) of the FRAS1 gene. This alteration results from a A to G substitution at nucleotide position 6584, causing the glutamic acid (E) at amino acid position 2195 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000870530 SCV004699716 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FRAS1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003927667 SCV004738410 likely benign FRAS1-related disorder 2019-03-27 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).

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