ClinVar Miner

Submissions for variant NM_138715.3(MSR1):c.76C>T (p.Arg26Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154797 SCV003843745 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246191 SCV005001254 uncertain significance not specified 2024-01-30 criteria provided, single submitter clinical testing The c.76C>T (p.R26C) alteration is located in exon 2 (coding exon 1) of the MSR1 gene. This alteration results from a C to T substitution at nucleotide position 76, causing the arginine (R) at amino acid position 26 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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