ClinVar Miner

Submissions for variant NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)

gnomAD frequency: 0.00001  dbSNP: rs756238927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003072688 SCV003471348 uncertain significance SRD5A3-congenital disorder of glycosylation 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 61 of the SRD5A3 protein (p.Ser61Trp). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SRD5A3-related conditions. This variant is present in population databases (rs756238927, gnomAD 0.006%).
Ambry Genetics RCV003250747 SCV003963577 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.182C>G (p.S61W) alteration is located in exon 1 (coding exon 1) of the SRD5A3 gene. This alteration results from a C to G substitution at nucleotide position 182, causing the serine (S) at amino acid position 61 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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