ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)

gnomAD frequency: 0.00021  dbSNP: rs151077440
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV003991477 SCV004809113 uncertain significance Recombinase activating gene 1 deficiency 2024-02-12 reviewed by expert panel curation NM_000448.3(RAG1):c.1064T>C is a missense variant predicted to cause substitution of Methionine by Threonine at amino acid 355 (p.Met355Thr).The highest population minor allele frequency in gnomAD v4 is 0.001815 (11/6062) in Middle Eastern population. (PM2_Supporting, BS1, and BA1 are not met). There are no publications for this variant in the literature. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to RAG1 deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: No criteria met (VCEP specifications version 1).
Invitae RCV000707727 SCV000836836 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763737 SCV000894622 uncertain significance Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105310 SCV001262260 uncertain significance Histiocytic medullary reticulosis 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001105311 SCV001262261 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2017-04-28 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.

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