ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)

dbSNP: rs746116617
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404116 SCV000476579 uncertain significance Familial dysautonomia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823322 SCV000964176 uncertain significance not provided 2019-12-23 criteria provided, single submitter clinical testing This variant, c.1439_1441delCTC, results in the deletion of 1 amino acid of the ELP1 protein (p.Pro480del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746116617, ExAC 0.02%). This variant has not been reported in the literature in individuals with ELP1-related disease. ClinVar contains an entry for this variant (Variation ID: 364575). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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 RCV004022100 SCV002754802 uncertain significance not specified 2023-03-10 criteria provided, single submitter clinical testing The c.1439_1441delCTC (p.P480del) alteration is located in exon 13 (coding exon 12) of the IKBKAP gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.1439 and c.1441, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002488819 SCV002792109 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000404116 SCV001458957 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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