ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) (rs145867502)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990146 SCV000286145 benign Rhabdoid tumor predisposition syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000766541 SCV000569850 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing This variant is denoted SMARCA4 c.76G>A at the cDNA level, p.Ala26Thr (A26T) at the protein level, and results in the change of an Alanine to a Threonine (GCC>ACC). This variant was identified in 1/236 healthy Hispanic individuals undergoing whole genome sequencing (Bodian 2014). Of note, the participants in this study were younger than 50 years old thus the unaffected status of this individual may not be significant. SMARCA4 Ala26Thr was observed with an allele frequency of 0.3% (12/4378) in African Americans in the NHLBI Exome Sequencing Project. Since Alanine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. SMARCA4 Ala26Thr occurs at a position that is conserved in mammals and is located within the region of interaction with SS18L1/CREST (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether SMARCA4 Ala26Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000566087 SCV000663893 likely benign Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Mendelics RCV000990146 SCV001140974 likely benign Rhabdoid tumor predisposition syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000122060 SCV000086271 not provided not specified 2013-09-19 no assertion provided reference population

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