ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.609C>T (p.Ala203=) (rs140017506)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757411 SCV000885620 likely benign not provided 2018-02-15 criteria provided, single submitter clinical testing The c.609C>T; p.Ala203Ala variant (rs140017506) does not alter the amino acid sequence of the INF2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with CMT in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a Finnish population frequency of 0.1% (identified on 26 out of 25,772 chromosomes). Based on the available information, the c.609C>T variant is likely to be benign.
Invitae RCV001078553 SCV001019626 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001113743 SCV001271535 benign Focal segmental glomerulosclerosis 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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