Submissions for variant NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) (rs755584530)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000464224	SCV000554051	uncertain significance	Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3	2019-12-15	criteria provided, single submitter	clinical testing	This sequence change replaces alanine with aspartic acid at codon 133 of the SDHD protein (p.Ala133Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SDHD-related disease. ClinVar contains an entry for this variant (Variation ID: 412502). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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