ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.909T>G (p.Ile303Met)

dbSNP: rs1555754852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562694 SCV000672262 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-23 criteria provided, single submitter clinical testing The p.I303M variant (also known as c.909T>G), located in coding exon 5 of the SMARCA4 gene, results from a T to G substitution at nucleotide position 909. The isoleucine at codon 303 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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