ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) (rs375576259)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572868 SCV000664733 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000287726 SCV000456989 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345164 SCV000456990 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383376 SCV000456991 uncertain significance Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228365 SCV000288136 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 148 of the SDHA protein (p.Ala148Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs375576259, ExAC 0.03%). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 239668). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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