ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)

gnomAD frequency: 0.00001  dbSNP: rs773117166
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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 RCV001051167 SCV001215308 uncertain significance not provided 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 201 of the ELP1 protein (p.Arg201Trp). This variant is present in population databases (rs773117166, gnomAD 0.004%). 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: 847586). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002489618 SCV002776182 uncertain significance Medulloblastoma; Familial dysautonomia 2021-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827323 SCV002082164 uncertain significance Familial dysautonomia 2021-05-31 no assertion criteria provided clinical testing

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