ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.824A>G (p.His275Arg)

dbSNP: rs1564100993
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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 RCV004526830 SCV005039150 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing Variant summary: ELP1 c.824A>G (p.His275Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251478 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.824A>G in individuals affected with Familial Dysautonomia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 990665). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001278730 SCV001465762 uncertain significance Familial dysautonomia 2020-08-20 no assertion criteria provided clinical testing

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