ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)

gnomAD frequency: 0.00018  dbSNP: rs142037395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001104161 SCV001261003 uncertain significance Deficiency of steroid 17-alpha-monooxygenase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002558042 SCV003286664 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 330 of the CYP17A1 protein (p.Glu330Lys). This variant is present in population databases (rs142037395, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CYP17A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 877971). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002555018 SCV003690754 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.988G>A (p.E330K) alteration is located in exon 6 (coding exon 6) of the CYP17A1 gene. This alteration results from a G to A substitution at nucleotide position 988, causing the glutamic acid (E) at amino acid position 330 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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