ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.388G>C (p.Ala130Pro)

gnomAD frequency: 0.00001  dbSNP: rs1312671864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002544721 SCV000813230 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2023-02-25 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SDHD protein function. ClinVar contains an entry for this variant (Variation ID: 566026). 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 alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 130 of the SDHD protein (p.Ala130Pro).
PreventionGenetics, part of Exact Sciences RCV003965435 SCV004783026 uncertain significance SDHD-related condition 2024-01-26 criteria provided, single submitter clinical testing The SDHD c.388G>C variant is predicted to result in the amino acid substitution p.Ala130Pro. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. It is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/566026/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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