ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4279T>C (p.Ser1427Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002330091 SCV002631599 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-25 criteria provided, single submitter clinical testing The p.S1427P variant (also known as c.4279T>C), located in coding exon 29 of the ALK gene, results from a T to C substitution at nucleotide position 4279. The serine at codon 1427 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094618 SCV003027192 uncertain significance Neuroblastoma, susceptibility to, 3 2023-08-02 criteria provided, single submitter clinical testing 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. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1427 of the ALK protein (p.Ser1427Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1739316). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Baylor Genetics RCV003094618 SCV004197820 uncertain significance Neuroblastoma, susceptibility to, 3 2023-10-18 criteria provided, single submitter clinical testing

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