ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)

gnomAD frequency: 0.00003  dbSNP: rs774081826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754831 SCV001996451 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003771983 SCV003790512 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247013 SCV003944003 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.1172A>G (p.H391R) alteration is located in exon 11 (coding exon 10) of the ALDH18A1 gene. This alteration results from a A to G substitution at nucleotide position 1172, causing the histidine (H) at amino acid position 391 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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