ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)

dbSNP: rs1043566340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240510 SCV001229365 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2022-09-18 criteria provided, single submitter clinical testing 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: 858565). 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). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 39 of the SDHD protein (p.Pro39Thr).
Ambry Genetics RCV002374967 SCV002626093 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-18 criteria provided, single submitter clinical testing The p.P39T variant (also known as c.115C>A), located in coding exon 2 of the SDHD gene, results from a C to A substitution at nucleotide position 115. The proline at codon 39 is replaced by threonine, an amino acid with highly 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.

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