ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)

gnomAD frequency: 0.00009  dbSNP: rs199595486
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246735 SCV001420115 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1317 of the ELP1 protein (p.Pro1317Thr). This variant is present in population databases (rs199595486, gnomAD no frequency). 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: 971048). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004034870 SCV002755584 uncertain significance not specified 2023-03-28 criteria provided, single submitter clinical testing The c.3949C>A (p.P1317T) alteration is located in exon 37 (coding exon 36) of the IKBKAP gene. This alteration results from a C to A substitution at nucleotide position 3949, causing the proline (P) at amino acid position 1317 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001246735 SCV002770247 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002480843 SCV002788616 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279852 SCV001466985 uncertain significance Familial dysautonomia 2020-08-28 no assertion criteria provided clinical testing

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