ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1393G>A (p.Ala465Thr)

dbSNP: rs1553412810
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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 RCV000571976 SCV000673949 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.A465T variant (also known as c.1393G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 1393. The alanine at codon 465 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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.
Baylor Genetics RCV003459388 SCV004197680 uncertain significance Endometrial carcinoma 2023-10-01 criteria provided, single submitter clinical testing

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