ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2989G>A (p.Asp997Asn)

gnomAD frequency: 0.00001  dbSNP: rs370719592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649963 SCV000771800 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-11-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811421 SCV001471698 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing The INF2 c.2989G>A; p.Asp997Asn variant (rs370719592), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 540041). This variant is found in the general population with an overall allele frequency of 0.01% (16/277120 alleles) in the Genome Aggregation Database. The aspartate at codon 997 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Asp997Asn variant is uncertain at this time.
Ambry Genetics RCV002440353 SCV002751450 likely benign Inborn genetic diseases 2020-06-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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