ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg)

gnomAD frequency: 0.00088  dbSNP: rs55694258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238894 SCV000297196 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878301 SCV001021183 benign 46,XY sex reversal 6 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422166 SCV004162845 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MAP3K1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003422166 SCV005222804 likely benign not provided criteria provided, single submitter not provided
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000878301 SCV005399789 likely benign 46,XY sex reversal 6 2024-10-09 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely benign. Following criteria are met: 0101 - Gain of function is a known mechanism of disease in this gene and is associated with 46,XY sex reversal 6 (MIM#613762) (PMIDs: 21129722, 24135036, 30608580). (I) 0107 - This gene is associated with autosomal dominant disease. However, it is sex-limited in that only 46XY individuals are affected (GeneReviews). (I) 0115 - Variants in this gene are known to have variable expressivity. Intra- and inter-familial variability have been reported (PMIDs: 27899157, 12476449, 21129722). (I) 0200 - Variant is predicted to result in a missense amino acid change from glutamine to arginine. (I) 0251 - This variant is heterozygous. (I) 0310 - Variant is present in gnomAD >=0.001 and <0.01 for a dominant condition (v2: 396 heterozygotes, 5 homozygotes). (I) 0806 - This variant has moderate previous evidence of being benign in unrelated individuals. This variant has been classified multiple times as likely benign/benign by clinical laboratories in ClinVar. (SB) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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