ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3307TCC[1] (p.Ser1104del)

dbSNP: rs1338813327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701987 SCV000830814 uncertain significance Neuroblastoma, susceptibility to, 3 2024-04-10 criteria provided, single submitter clinical testing This variant, c.3310_3312del, results in the deletion of 1 amino acid(s) of the ALK protein (p.Ser1104del), but otherwise preserves the integrity of the reading frame. 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: 578856). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002325416 SCV002606564 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-09 criteria provided, single submitter clinical testing The c.3310_3312delTCC variant (also known as p.S1104del) is located in coding exon 20 of the ALK gene. This variant results from an in-frame TCC deletion at nucleotide positions 3310 to 3312. This results in the in-frame deletion of a serine at codon 1104. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000701987 SCV005057805 uncertain significance Neuroblastoma, susceptibility to, 3 2024-02-27 criteria provided, single submitter clinical testing

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