ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6131del (p.Phe2044fs)

dbSNP: rs1703258379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001290741 SCV001478464 pathogenic Spermatogenic failure 18 2021-02-09 no assertion criteria provided clinical testing Patient is a man with French origin, suffering from severe astheno-teratozoospermia, with 97% immotile sperm and 92% abnormal flagella. He carries another heterozygous variation ( c.9610C>T, p.Arg3204*). Parental sequencing revealed that the patient is compound heterozygous.

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