ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3071C>T (p.Thr1024Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785941 SCV005402095 uncertain significance Medulloblastoma 2024-02-06 criteria provided, single submitter clinical testing The ELP1 c.3071C>T (p.Thr1024Ile) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but this prediction has not been confirmed by functional studies. This variant has not been reported in individuals with medulloblastoma or familial dysautonomia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV004907902 SCV005575157 uncertain significance not specified 2024-12-09 criteria provided, single submitter clinical testing The c.3071C>T (p.T1024I) alteration is located in exon 28 (coding exon 27) of the IKBKAP gene. This alteration results from a C to T substitution at nucleotide position 3071, causing the threonine (T) at amino acid position 1024 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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