ClinVar Miner

Submissions for variant NM_013338.5(ALG5):c.208G>A (p.Val70Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004634415 SCV005127851 uncertain significance not specified 2024-04-17 criteria provided, single submitter clinical testing The c.208G>A (p.V70I) alteration is located in exon 2 (coding exon 2) of the ALG5 gene. This alteration results from a G to A substitution at nucleotide position 208, causing the valine (V) at amino acid position 70 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 RCV003969850 SCV004783607 likely benign ALG5-related disorder 2023-09-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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