ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)

dbSNP: rs558914063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002242662 SCV001568415 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2023-04-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 8 of the SDHD protein (p.Ser8Asn). 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. 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 SDHD protein function. ClinVar contains an entry for this variant (Variation ID: 1062149). This variant has not been reported in the literature in individuals affected with SDHD-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002432047 SCV002731506 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-27 criteria provided, single submitter clinical testing The p.S8N variant (also known as c.23G>A), located in coding exon 1 of the SDHD gene, results from a G to A substitution at nucleotide position 23. The serine at codon 8 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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