ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.906G>A (p.Leu302=)

dbSNP: rs786202947
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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 RCV000166023 SCV000216782 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-02 criteria provided, single submitter clinical testing The c.906G>A (p.L302L) alteration is located in exon 5 (coding exon 5) of the MSH2 gene. This alteration consists of a G to A substitution at nucleotide position 906. This nucleotide substitution does not change the amino acid at codon 302. However, this change occurs in the last nucleotide of Exon 5 (c.793_942) 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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