ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)

dbSNP: rs1057517550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409884 SCV000488233 uncertain significance Paragangliomas 5 2016-01-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256224 SCV002527705 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003766137 SCV004581167 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-05-08 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDHA 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. ClinVar contains an entry for this variant (Variation ID: 371819). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 454 of the SDHA protein (p.Ala454Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions.

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