ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)

gnomAD frequency: 0.00002  dbSNP: rs147069577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225399 SCV001397679 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1057 of the ELP1 protein (p.Val1057Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 953149). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002491711 SCV002793409 uncertain significance Medulloblastoma; Familial dysautonomia 2021-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833947 SCV002082040 uncertain significance Familial dysautonomia 2020-12-18 no assertion criteria provided clinical testing

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