ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)

gnomAD frequency: 0.00001  dbSNP: rs200634033
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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 RCV003331100 SCV004037895 uncertain significance not specified 2023-08-04 criteria provided, single submitter clinical testing Variant summary: ELP1 c.3784A>G (p.Thr1262Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251460 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.3784A>G in individuals affected with Familial Dysautonomia and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed this variant since 2014, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001279853 SCV001466986 uncertain significance Familial dysautonomia 2020-04-21 no assertion criteria provided clinical testing

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