ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.313G>T (p.Val105Phe)

dbSNP: rs764767995
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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 RCV001047134 SCV001211071 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ELP1-related conditions. This variant is present in population databases (rs764767995, ExAC 0.002%). This sequence change replaces valine with phenylalanine at codon 105 of the ELP1 protein (p.Val105Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.
Natera, Inc. RCV001827295 SCV002082178 uncertain significance Familial dysautonomia 2020-12-08 no assertion criteria provided clinical testing

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