ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1345G>T (p.Gly449Cys)

gnomAD frequency: 0.00019  dbSNP: rs199730711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999026 SCV001155411 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246400 SCV001419750 uncertain significance Hereditary spastic paraplegia 54 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 449 of the DDHD2 protein (p.Gly449Cys). This variant is present in population databases (rs199730711, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 810277). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000999026 SCV001714869 uncertain significance not provided 2020-04-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847132 SCV002104602 uncertain significance Hereditary spastic paraplegia 2018-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549114 SCV003678509 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The c.1345G>T (p.G449C) alteration is located in exon 12 (coding exon 11) of the DDHD2 gene. This alteration results from a G to T substitution at nucleotide position 1345, causing the glycine (G) at amino acid position 449 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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