ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1173+5G>A

dbSNP: rs761726585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259242 SCV002535927 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-09 criteria provided, single submitter curation
Ambry Genetics RCV002259242 SCV002631639 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing The c.1173+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 7 in the MSH3 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094242 SCV003500325 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing This sequence change falls in intron 7 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 present in population databases (rs761726585, gnomAD 0.0009%). 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: 1692655). 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.

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