ClinVar Miner

Submissions for variant NM_205860.3(NR5A2):c.681T>G (p.His227Gln)

dbSNP: rs749896579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV001270190 SCV001364321 likely pathogenic Premature ovarian failure 2020-03-02 criteria provided, single submitter research
Ambry Genetics RCV002560184 SCV003731536 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.681T>G (p.H227Q) alteration is located in exon 5 (coding exon 5) of the NR5A2 gene. This alteration results from a T to G substitution at nucleotide position 681, causing the histidine (H) at amino acid position 227 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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