ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1001T>A (p.Leu334Gln)

dbSNP: rs2148158767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001964044 SCV002255583 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-21 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. 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. ClinVar contains an entry for this variant (Variation ID: 1470149). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 334 of the ALK protein (p.Leu334Gln).
Ambry Genetics RCV004946955 SCV005595086 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-18 criteria provided, single submitter clinical testing The p.L334Q variant (also known as c.1001T>A), located in coding exon 4 of the ALK gene, results from a T to A substitution at nucleotide position 1001. The leucine at codon 334 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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