ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2543+5G>A

dbSNP: rs1744533862
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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 RCV001066069 SCV001231063 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the MSH3 gene. It does not directly change the encoded amino acid sequence of the MSH3 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 859866). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002429720 SCV002742480 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-27 criteria provided, single submitter clinical testing The c.2543+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 18 in the MSH3 gene. This nucleotide position is not well 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.
Fulgent Genetics, Fulgent Genetics RCV005036376 SCV005666206 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-01-31 criteria provided, single submitter clinical testing

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