ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.99A>C (p.Lys33Asn)

dbSNP: rs1575377215
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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 RCV001019966 SCV001181386 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing The p.K33N variant (also known as c.99A>C), located in coding exon 1 of the MLH1 gene, results from an A to C substitution at nucleotide position 99. The lysine at codon 33 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001019966 SCV001352151 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-19 criteria provided, single submitter clinical testing

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