ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4351G>A (p.Ala1451Thr) (rs374722116)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234229 SCV000286088 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1451 of the SMARCA4 protein (p.Ala1451Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs374722116, ExAC 0.003%). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 238467). 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 tolerated, 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 RCV000564145 SCV000672128 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Fulgent Genetics,Fulgent Genetics RCV000765423 SCV000896707 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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