ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)

gnomAD frequency: 0.00002  dbSNP: rs558588647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065145 SCV001230088 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1276 of the ELP1 protein (p.Leu1276Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs558588647, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004030572 SCV002754689 uncertain significance not specified 2023-12-09 criteria provided, single submitter clinical testing The c.3827T>C (p.L1276P) alteration is located in exon 35 (coding exon 34) of the IKBKAP gene. This alteration results from a T to C substitution at nucleotide position 3827, causing the leucine (L) at amino acid position 1276 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002482088 SCV002787220 uncertain significance Medulloblastoma; Familial dysautonomia 2022-04-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275740 SCV001461178 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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