ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.283del (p.Leu95fs)

dbSNP: rs2135269692
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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 RCV001935311 SCV002184290 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2021-02-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SDHD-related conditions. This sequence change creates a premature translational stop signal (p.Leu95Trpfs*40) in the SDHD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the SDHD protein. This variant is not present in population databases (ExAC no frequency). This variant disrupts the C-terminus of the SDHD protein. Other variant(s) that disrupt this region (p.His145Thrfs*23) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004770277 SCV005380147 likely pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 65 amino acids are replaced with 39 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36597280)

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