ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)

gnomAD frequency: 0.00001  dbSNP: rs199813856
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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 RCV002545892 SCV000813327 uncertain significance not provided 2022-07-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1285 of the ELP1 protein (p.Pro1285Leu). This variant is present in population databases (rs199813856, gnomAD 0.03%). 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: 566098). 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.
Ambry Genetics RCV004026211 SCV003877668 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.3854C>T (p.P1285L) alteration is located in exon 35 (coding exon 34) of the IKBKAP gene. This alteration results from a C to T substitution at nucleotide position 3854, causing the proline (P) at amino acid position 1285 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000685828 SCV001452813 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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