ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.356C>T (p.Ala119Val)

gnomAD frequency: 0.00001  dbSNP: rs758784300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216444 SCV000278502 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-21 criteria provided, single submitter clinical testing The p.A119V variant (also known as c.356C>T), located in coding exon 4 of the SDHD gene, results from a C to T substitution at nucleotide position 356. The alanine at codon 119 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516174 SCV000961409 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 119 of the SDHD protein (p.Ala119Val). This variant is present in population databases (rs758784300, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SDHD-related conditions. ClinVar contains an entry for this variant (Variation ID: 234019). 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 valine 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.
Baylor Genetics RCV003475036 SCV004203092 uncertain significance Mitochondrial complex 2 deficiency, nuclear type 3 2023-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049493 SCV005681029 uncertain significance Carney-Stratakis syndrome; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3 2024-05-07 criteria provided, single submitter clinical testing

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