Submissions for variant NM_001349798.2(FBXW7):c.1002G>T (p.Leu334Phe)

dbSNP: rs2126536419

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003230835	SCV003928644	uncertain significance	not specified	2023-04-06	criteria provided, single submitter	clinical testing	Variant summary: FBXW7 c.1002G>T (p.Leu334Phe) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250070 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1002G>T in individuals affected with Developmental Delay, Hypotonia, And Impaired Language and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV004548505	SCV004105519	uncertain significance	FBXW7-related disorder	2023-07-31	criteria provided, single submitter	clinical testing	The FBXW7 c.1002G>T variant is predicted to result in the amino acid substitution p.Leu334Phe. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx	RCV004823138	SCV005442984	likely benign	not provided	2024-07-05	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.