ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4967C>T (p.Pro1656Leu) (rs756255060)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468620 SCV000548412 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1656 of the SMARCA4 protein (p.Pro1656Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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 SMARCA4-related disease. ClinVar contains an entry for this variant (Variation ID: 408631). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000573349 SCV000663983 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-09 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765428 SCV000896712 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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