ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.980G>A (p.Arg327Gln)

dbSNP: rs778499309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000782171 SCV000920639 likely pathogenic Perrault syndrome 2 2019-05-20 no assertion criteria provided clinical testing Variant detected as compound heterozygous, together with c.448C>T in a girl with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to her young age.

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