ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.792+4C>T

dbSNP: rs1416241924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538257 SCV000625464 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420348 SCV002677034 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-17 criteria provided, single submitter clinical testing The c.792+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 4 in the MSH2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002420348 SCV004356632 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-17 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the +4 position of intron 4 of the MSH2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH2-related disorders in the literature. This variant has been identified in 1/250294 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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