ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.424C>T (p.Pro142Ser)

gnomAD frequency: 0.00001  dbSNP: rs370034421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802027 SCV000941835 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ELP1 protein function. ClinVar contains an entry for this variant (Variation ID: 647507). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 142 of the ELP1 protein (p.Pro142Ser).
Ambry Genetics RCV004028087 SCV002755970 uncertain significance not specified 2021-06-14 criteria provided, single submitter clinical testing The p.P142S variant (also known as c.424C>T), located in coding exon 4 of the IKBKAP gene, results from a C to T substitution at nucleotide position 424. The proline at codon 142 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830729 SCV002082175 uncertain significance Familial dysautonomia 2020-07-29 no assertion criteria provided clinical testing

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