ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1003_1021dup (p.Ala341fs)

dbSNP: rs775891730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341714 SCV001535599 uncertain significance Long QT syndrome 2020-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala341Glufs*103) in the SNTA1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SNTA1-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SNTA1 cause disease. 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224068 SCV002503105 uncertain significance not provided 2021-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504535 SCV002816385 uncertain significance Long QT syndrome 12 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035971 SCV005020476 uncertain significance Cardiovascular phenotype 2023-11-17 criteria provided, single submitter clinical testing The c.1003_1021dup19 variant, located in coding exon 5 of the SNTA1 gene, results from a duplication of AGCCGGCCAGCCCGTACTG at nucleotide position 1003, causing a translational frameshift with a predicted alternate stop codon (p.A341Efs*103). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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