ClinVar Miner

Submissions for variant NM_152327.5(AK7):c.2018T>C (p.Leu673Pro)

gnomAD frequency: 0.00143  dbSNP: rs116298211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755755 SCV000883303 likely pathogenic Spermatogenic failure 27 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Spermatogenic failure 27, autosomal recessive. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/29365104). PM1-Supporting => PM1 downgraded in strength to Supporting (https://www.uniprot.org/uniprot/Q96M32). PM2-Supporting => PM2 downgraded in strength to Supporting.
Invitae RCV002067184 SCV002452353 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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