ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn)

gnomAD frequency: 0.00010  dbSNP: rs146834097
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319823 SCV000432138 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374449 SCV000432139 uncertain significance Mitochondrial DNA depletion syndrome 9 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997181 SCV001152373 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000374449 SCV002141228 uncertain significance Mitochondrial DNA depletion syndrome 9 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 320 of the SUCLG1 protein (p.Ser320Asn). This variant is present in population databases (rs146834097, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 337154). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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