ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.844G>A (p.Val282Ile)

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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 RCV002669246 SCV003541299 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.844G>A (p.V282I) alteration is located in exon 8 (coding exon 8) of the SUCLG1 gene. This alteration results from a G to A substitution at nucleotide position 844, causing the valine (V) at amino acid position 282 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140151 SCV003818142 uncertain significance Mitochondrial DNA depletion syndrome 9 2020-08-24 criteria provided, single submitter clinical testing

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