ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.578C>T (p.Ala193Val)

gnomAD frequency: 0.00001  dbSNP: rs1268767392
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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 RCV001220004 SCV001391974 uncertain significance Hereditary spastic paraplegia 28 2019-07-01 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DDHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 193 of the DDHD1 protein (p.Ala193Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV004978129 SCV005569807 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.578C>T (p.A193V) alteration is located in exon 1 (coding exon 1) of the DDHD1 gene. This alteration results from a C to T substitution at nucleotide position 578, causing the alanine (A) at amino acid position 193 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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