ClinVar Miner

Submissions for variant NM_000045.4(ARG1):c.2T>C (p.Met1Thr)

dbSNP: rs1554249332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671896 SCV000796929 likely pathogenic Arginase deficiency 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000671896 SCV001584667 pathogenic Arginase deficiency 2020-04-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ile11 amino acid residue in ARG1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7649538, 21310339, 22959135, 26310552, 29726057). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed to be homozygous in an individual affected with arginase deficiency (PMID: 29726057). ClinVar contains an entry for this variant (Variation ID: 555971). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the ARG1 mRNA. The next in-frame methionine is located at codon 200.
Baylor Genetics RCV000671896 SCV003836211 pathogenic Arginase deficiency 2022-02-24 criteria provided, single submitter clinical testing

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