ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.262C>T (p.Pro88Ser)

gnomAD frequency: 0.00003  dbSNP: rs751480162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333167 SCV001525679 uncertain significance Mitochondrial DNA depletion syndrome 9 2018-09-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333167 SCV001539328 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 88 of the SUCLG1 protein (p.Pro88Ser). This variant is present in population databases (rs751480162, gnomAD 0.007%). 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: 1031363). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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