ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7260_7262del (p.Ser2421del)

dbSNP: rs879255357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238793 SCV000297024 uncertain significance Familial multiple polyposis syndrome 2015-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004563287 SCV001207238 uncertain significance Familial adenomatous polyposis 1 2019-01-15 criteria provided, single submitter clinical testing This variant, c.7260_7262del, results in the deletion of 1 amino acid of the APC protein (p.Ser2421del), but otherwise preserves the integrity of the reading frame. 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 APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 252532). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.

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