ClinVar Miner

Submissions for variant NM_001101677.2(SOHLH1):c.346-1G>A

gnomAD frequency: 0.00173  dbSNP: rs140132974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899225 SCV001043479 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796275 SCV005416743 uncertain significance Ovarian dysgenesis 5 criteria provided, single submitter clinical testing PVS1_Strong+BS1
OMIM RCV000679811 SCV000807191 pathogenic Spermatogenic failure 32 2018-09-11 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000991169 SCV001142406 pathogenic Spermatogenic Failure 2020-01-06 no assertion criteria provided curation NG_033784.1(NM_001101677.1):c.346-1G>A in the SOHLH1 gene has an allele frequency of 0.015 in European (Finnish) subpopulation in the gnomAD database. 5 homozygous occurrences are observed in the gnomAD database. This variant destroys the canonical splice donor site. It is was predicted to lead to skipping of exon 4 or activation of a cryptic splice acceptor site in exon 4. The c.346-1G>A has been detected in two individuals with non-obstructive azoospermia (PMID: 20506135, 28718531). In the patient reported by Nakamura (PMID: 20506135), c.346-1G>A mutation was not detected in both parents of each probands, indicating a de novo event. We interpret it as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PVS1, PS2, PP4, BS1.

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