ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3830C>T (p.Pro1277Leu) (rs746219091)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192371 SCV000248968 uncertain significance not specified 2014-08-22 criteria provided, single submitter clinical testing
Invitae RCV000462746 SCV000548437 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1277 of the SMARCA4 protein (p.Pro1277Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs746219091, ExAC 0.006%). This variant has not been reported in the literature in individuals with SMARCA4-related disease. ClinVar contains an entry for this variant (Variation ID: 212253). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV000566998 SCV000664068 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000765422 SCV000896706 uncertain significance Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 2018-10-31 criteria provided, single submitter clinical testing

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