ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2257C>T (p.Arg753Trp)

dbSNP: rs745499366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647398 SCV000769194 uncertain significance Neuroblastoma, susceptibility to, 3 2023-03-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 538196). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs745499366, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 753 of the ALK protein (p.Arg753Trp).
Preventiongenetics, part of Exact Sciences RCV003424231 SCV004117599 uncertain significance ALK-related condition 2022-09-19 criteria provided, single submitter clinical testing The ALK c.2257C>T variant is predicted to result in the amino acid substitution p.Arg753Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-29462644-G-A) and is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/538196/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV000647398 SCV004190358 uncertain significance Neuroblastoma, susceptibility to, 3 2023-07-02 criteria provided, single submitter clinical testing

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