ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) (rs139703788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630703 SCV000751669 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780354 SCV000917544 uncertain significance not specified 2017-11-06 criteria provided, single submitter clinical testing Variant summary: The IKBKAP c.1213C>T (p.Arg405Trp) variant involves the alteration of a conserved nucleotide. 3/3 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 236/277108 control chromosomes at a frequency of 0.0008517, which does not exceed the estimated maximal expected allele frequency of a pathogenic IKBKAP variant (0.001838). However, one subpopulation (Ashkenazi Jewish) has an allele frequency that is approximately 2 times above the maximal expected allele frequency, and two homozygous controls individuals of South Asian descent have been identified, suggesting a benign impact for the variant. One clinical diagnostic laboratories/reputable databases classified this variant as one of uncertain significance. Taken together, this variant is classified as VUS-possibly benign.

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