ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1732-5C>T

dbSNP: rs587778941
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129241 SCV000183999 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-21 criteria provided, single submitter clinical testing The c.1732-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 16 in the MLH1 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000075337 SCV000555972 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-10-24 criteria provided, single submitter clinical testing

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