ClinVar Miner

Submissions for variant NM_000038.6(APC):c.956del (p.Leu319fs)

dbSNP: rs1064793530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486688 SCV000566345 pathogenic not provided 2015-04-20 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.956delT at the cDNA level and p.Leu319CysfsX17 (L319CfsX17) at the protein level. The normal sequence, with the base that is deleted in braces, is TTGT[T]GTCA. The deletion causes a frameshift, which changes a Leucine to a Cysteine at codon 319, and creates a premature stop codon at position 17 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002526531 SCV000827716 pathogenic Familial adenomatous polyposis 1 2018-06-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 418926). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu319Cysfs*17) in the APC gene. It is expected to result in an absent or disrupted protein product.
Sema4, Sema4 RCV002256317 SCV002529585 pathogenic Hereditary cancer-predisposing syndrome 2022-02-21 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV002526531 SCV004044069 pathogenic Familial adenomatous polyposis 1 2023-04-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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