ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.394del (p.Ser132fs) (rs1060503773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465313 SCV000554054 likely pathogenic Pheochromocytoma; Paragangliomas 1 2016-07-31 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the SDHD mRNA (c.394delT), causing a frameshift at codon 132. This creates a premature translational stop signal in the last exon of the SDHD mRNA (p.Ser132Glnfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated SDHD protein. While this particular variant has not been reported in the literature, a missense substitution downstream of this variant (p.Leu139Pro) has been determined to be pathogenic (PMID: 21348866), suggesting that the leucine 139 residue is critical for SDHD protein function. In summary, this sequence change results in a frameshift and truncation in the last exon of the SDHD gene, and is located upstream of a residue which is required for SDHD protein function. For these reasons, this variant has been classified as Likely Pathogenic.

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