ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3258T>C (p.Asp1086=)

dbSNP: rs1555781763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528198 SCV000648048 likely benign Rhabdoid tumor predisposition syndrome 2 2022-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024137 SCV004953859 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-08 criteria provided, single submitter clinical testing The c.3258T>C (p.D1086D) alteration is located in exon 24 (coding exon 23) of the SMARCA4 gene. This alteration consists of a T to C substitution at nucleotide position 3258. This nucleotide substitution does not change the amino acid at codon 1086. However, this change occurs in the last nucleotide of Exon 24 (c.3216_3382) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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