ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.370T>C (p.Ser124Pro)

gnomAD frequency: 0.00001  dbSNP: rs1364916594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065406 SCV001230362 uncertain significance Neuroblastoma, susceptibility to, 3 2019-05-02 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ALK-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with proline at codon 124 of the ALK protein (p.Ser124Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline.

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