ClinVar Miner

Submissions for variant NM_002804.5(PSMC3):c.929T>C (p.Met310Thr)

dbSNP: rs2496050991
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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 RCV002651932 SCV003526524 likely pathogenic Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The c.929T>C (p.M310T) alteration is located in coding exon 9 of the PSMC3 gene. This alteration results from a T to C substitution at nucleotide position 929, causing the methionine (M) at amino acid position 310 to be replaced by a threonine (T). Based on data from the Genome Aggregation Database (gnomAD), the PSMC3 c.929T>C alteration was not observed, with coverage at this position. This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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