ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)

gnomAD frequency: 0.00001  dbSNP: rs371587578
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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 RCV001302908 SCV001492135 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs371587578, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 260 of the IKBKAP protein (p.Pro260Ser). This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. 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"). ClinVar contains an entry for this variant (Variation ID: 645772).
Natera, Inc. RCV000799924 SCV002082155 uncertain significance Familial dysautonomia 2021-05-05 no assertion criteria provided clinical testing

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