ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)

dbSNP: rs876658637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216352 SCV000274154 pathogenic Hereditary cancer-predisposing syndrome 2015-02-20 criteria provided, single submitter clinical testing The c.310_311dupCA pathogenic mutation, located in coding exon 3 of the SDHA gene, results from a duplication of CA at nucleotide position 310, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV002518274 SCV003444264 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln104Hisfs*25) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567524 SCV005056603 likely pathogenic Dilated cardiomyopathy 1GG 2023-11-04 criteria provided, single submitter clinical testing

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