ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln)

dbSNP: rs1554034036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535504 SCV000650499 pathogenic 46,XY sex reversal 6 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 471688). This missense change has been observed in individual(s) with clinical features of 46,XY disorder of sex development (PMID: 25383892; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 339 of the MAP3K1 protein (p.Arg339Gln).

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