ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.965G>C (p.Arg322Pro)

dbSNP: rs1325460408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Genomics Group, Broad institute of MIT and Harvard RCV002279784 SCV002567815 likely pathogenic Fanconi renotubular syndrome 1 2022-08-24 no assertion criteria provided clinical testing Four heterozygous variants in GATM, p.(Pro320Ser), p.(Thr336Ala), p.(Thre336Ile) and p.(Pro341Leu), have previously been described as pathogenic for renal Fanconi syndrome with progression to kidney failure (Reichold et al JASN). All 4 variants were fully penetrant and clustered on conserved proline and threonine residues representing <5% of the protein. We identified a novel variant in GATM p.(Arg322Pro), segregating in an affected mother-daughter pair with idiopathic RFS. This variant is two amino acids downstream of a previously described pathogenic variant, p.(Pro320Ser). We perfomed molecular dynamics simulations which support pathogenicity of our novel variant through a consistent dynamic signature to pathogenic variants identified by Reichold et al.

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