ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)

gnomAD frequency: 0.00001  dbSNP: rs773228197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363706 SCV001559830 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 432 of the ELP1 protein (p.His432Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs773228197, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002493856 SCV002792351 uncertain significance Medulloblastoma; Familial dysautonomia 2022-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836365 SCV002082134 uncertain significance Familial dysautonomia 2021-10-13 no assertion criteria provided clinical testing

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