ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1071C>T (p.Ala357=) (rs755300047)

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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 RCV000756268 SCV000884026 likely benign not provided 2018-03-07 criteria provided, single submitter clinical testing The c.1071C>T; p.Ala357Ala variant (rs755300047) does not alter the amino acid sequence of the IGHMBP2 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 or neuropathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.002% (identified on 4 out of 245,292 chromosomes). Based on the available information, the c.1071C>T variant is likely to be benign.
Invitae RCV000756268 SCV001079421 likely benign not provided 2018-03-25 criteria provided, single submitter clinical testing
Invitae RCV001426123 SCV001628770 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-03-22 criteria provided, single submitter clinical testing

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