ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.914A>G (p.Asp305Gly)

dbSNP: rs774123293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040363 SCV001203932 uncertain significance Neuroblastoma, susceptibility to, 3 2022-03-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs774123293, gnomAD 0.0009%). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 838753). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 305 of the ALK protein (p.Asp305Gly).
Ambry Genetics RCV003380806 SCV004092481 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-08 criteria provided, single submitter clinical testing The p.D305G variant (also known as c.914A>G), located in coding exon 3 of the ALK gene, results from an A to G substitution at nucleotide position 914. The aspartic acid at codon 305 is replaced by glycine, 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.

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