ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.512A>G (p.Asn171Ser)

dbSNP: rs765519303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002291519 SCV002583560 uncertain significance Mitochondrial DNA depletion syndrome 9 2021-09-28 criteria provided, single submitter clinical testing A homozygous missense variation in exon 4 of the SUCLG1 gene that results in the amino acid substitution of Serine for Asparagine at codon 171 was detected. The observed variant c.512A>G (p.Asn171Ser) has not been reported in the 1000 genomes and has minor allele frequency of 0.0006% in the gnomAD database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by MutationTaster2, LRT and SIFT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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