ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2528A>G (p.His843Arg)

dbSNP: rs1828577961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323841 SCV004029826 uncertain significance not specified 2023-07-27 criteria provided, single submitter clinical testing Variant summary: ELP1 c.2528A>G (p.His843Arg) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251280 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2528A>G in individuals affected with Familial Dysautonomia and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001277382 SCV001464330 uncertain significance Familial dysautonomia 2020-09-12 no assertion criteria provided clinical testing

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