ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1717G>T (p.Ala573Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004018435 SCV004849081 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing The c.1717G>T (p.A573S) alteration is located in exon 11 (coding exon 11) of the MSH2 gene. This alteration results from a G to T substitution at nucleotide position 1717, causing the alanine (A) at amino acid position 573 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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