ClinVar Miner

Submissions for variant NM_001128849.1(SMARCA4):c.1524_1525inv (p.Ala509Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465298 SCV000548403 uncertain significance Rhabdoid tumor predisposition syndrome 2 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564929 SCV000675193 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing The c.1524_1525delTGinsCA variant, located in coding exon 8 of the SMARCA4 gene, results from an in-frame deletion of TG and insertion of CA at nucleotide positions 1524 to 1525. This results in the substitution of the alanine residue for a threonine residue at codon 509, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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