ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)

gnomAD frequency: 0.00003  dbSNP: rs756919296
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175047 SCV000226474 uncertain significance not provided 2015-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175047 SCV001385126 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 605 of the ELP1 protein (p.Tyr605Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: 194633). 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 RCV002478566 SCV002780643 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832001 SCV002082113 uncertain significance Familial dysautonomia 2020-04-29 no assertion criteria provided clinical testing

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