ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)

gnomAD frequency: 0.00001  dbSNP: rs187183483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001856247 SCV002139020 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 354 of the ELP1 protein (p.Val354Leu). This variant is present in population databases (rs187183483, gnomAD 0.06%). 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: 641976). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV000795344 SCV001462247 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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