ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.218del (p.Leu73fs) (rs1553329427)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive and Stem Cell Engineering,Central South University RCV000660881 SCV000680461 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-02-01 criteria provided, single submitter research The single-base deletion led to a frameshift mutation which was predicted to result in the formation of a truncated SRD5A2 protein with a stop codon at position 88. Although no functional studies have been performed, a mutant protein lacking several key regions could be pathogenic, be degraded, or confer a loss of function. This variant was detected in compound heterozygosity with NM_000348.3:c.680G>A in twin patients who presented with the same phenotype (perineal hypospadias, micropenis, and bilateral cryptorchidism) and were raised as females.

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