ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile)

gnomAD frequency: 0.00016  dbSNP: rs61757685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186726 SCV000240293 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000702625 SCV000831485 likely benign Pyridoxine-dependent epilepsy 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517836 SCV003706622 uncertain significance Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing The c.553G>A (p.V185I) alteration is located in exon 6 (coding exon 6) of the ALDH7A1 gene. This alteration results from a G to A substitution at nucleotide position 553, causing the valine (V) at amino acid position 185 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004755798 SCV005362468 uncertain significance ALDH7A1-related disorder 2024-06-18 no assertion criteria provided clinical testing The ALDH7A1 c.553G>A variant is predicted to result in the amino acid substitution p.Val185Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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