ClinVar Miner

Submissions for variant NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)

gnomAD frequency: 0.00004  dbSNP: rs746196486
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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 RCV004029249 SCV003876730 uncertain significance not specified 2023-01-31 criteria provided, single submitter clinical testing The c.1082A>G (p.N361S) alteration is located in exon 10 (coding exon 10) of the SUCLG2 gene. This alteration results from a A to G substitution at nucleotide position 1082, causing the asparagine (N) at amino acid position 361 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000845065 SCV000986906 not provided Mitochondrial DNA depletion syndrome 9 no assertion provided phenotyping only Variant interpreted as Uncertain significance on 10-30-2014 by Lab or GTR ID 320284. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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