ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)

gnomAD frequency: 0.00004  dbSNP: rs1286140759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486022 SCV002785707 uncertain significance Medulloblastoma; Familial dysautonomia 2021-12-24 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003325228 SCV004031137 uncertain significance Medulloblastoma 2023-08-18 criteria provided, single submitter clinical testing The ELP1 c.3137T>C (p.Val1046Ala) missense change has a maximum subpopulation frequency of 0.023% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with ELP1-associated disorders. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Natera, Inc. RCV001277374 SCV001464322 uncertain significance Familial dysautonomia 2020-05-25 no assertion criteria provided clinical testing

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