ClinVar Miner

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

dbSNP: rs768119795
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Total submissions: 4
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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 2024-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181968 SCV002670854 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-05 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 variant has been identified in a proband whose Lynch syndrome-associated tumor was microsatellite stable and demonstrated normal mismatch repair protein expression by immunohistochemistry (Li S et al. J. Med. Genet. 2020 Jan;57:62-69; Ambry internal data). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Myriad Genetics, Inc. RCV005245745 SCV005900018 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-20 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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