ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)

dbSNP: rs1590204913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806853 SCV000946872 likely pathogenic not provided 2023-09-10 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 651482). Disruption of the initiator codon has been observed in individual(s) with 17-alpha-hydroxylase deficiency (PMID: 9855540, 14715827). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the CYP17A1 mRNA. The next in-frame methionine is located at codon 49.
Fulgent Genetics, Fulgent Genetics RCV001830758 SCV002790868 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2022-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830758 SCV002085627 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2021-01-26 no assertion criteria provided clinical testing

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