ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.213_215del (p.Val72del)

dbSNP: rs1555186992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575825 SCV000675126 likely pathogenic Hereditary cancer-predisposing syndrome 2019-08-15 criteria provided, single submitter clinical testing The c.213_215delTGT variant (also known as p.V72del) is located in coding exon 3 of the SDHD gene. This variant results in an in-frame deletion of 3 nucleotides at positions 213 to 215 and removes a highly-conserved valine residue at codon 72. This alteration was identified in a patient with an extra-adrenal paraganglioma (Ambry internal data). This alteration disrupts an alpha helix immediately adjacent to a crucial heme binding site resulting in mis-orientation of key residues for modulating heme function (Sun F et al. Cell. 2005 Jul; 121(7):1043-57; Ambry internal structural data). Additionally, using the the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this alteration is likely to be pathogenic.

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