ClinVar Miner

Submissions for variant NM_002816.5(PSMD12):c.211G>T (p.Val71Leu)

gnomAD frequency: 0.00002  dbSNP: rs1332334979
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799529 SCV001441424 uncertain significance Stankiewicz-Isidor syndrome 2020-02-06 criteria provided, single submitter clinical testing
New York Genome Center RCV001836977 SCV002097780 uncertain significance Spermatogenic failure 18 2021-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035412 SCV005012824 uncertain significance Inborn genetic diseases 2024-02-02 criteria provided, single submitter clinical testing The c.211G>T (p.V71L) alteration is located in exon 3 (coding exon 3) of the PSMD12 gene. This alteration results from a G to T substitution at nucleotide position 211, causing the valine (V) at amino acid position 71 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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