ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2686G>A (p.Gly896Ser)

gnomAD frequency: 0.00001  dbSNP: rs200590656
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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 RCV001308071 SCV001497506 uncertain significance not provided 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 896 of the ELP1 protein (p.Gly896Ser). This variant is present in population databases (rs200590656, gnomAD 0.04%). 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: 989528). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Natera, Inc. RCV001277380 SCV001464328 uncertain significance Familial dysautonomia 2020-08-16 no assertion criteria provided clinical testing

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