ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.783C>T (p.Phe261=)

dbSNP: rs768119795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181968 SCV001347237 likely benign Hereditary cancer-predisposing syndrome 2019-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068303 SCV002393937 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181968 SCV002670854 likely pathogenic Hereditary cancer-predisposing syndrome 2023-09-10 criteria provided, single submitter clinical testing The c.783C>T variant (also known as p.F261F), located in coding exon 9 of the MLH1 gene, results from a C to T substitution at nucleotide position 783. This nucleotide substitution does not change the at codon 261. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. However, RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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