ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1834T>G (p.Ser612Ala)

gnomAD frequency: 0.00009  dbSNP: rs142193606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688911 SCV000816540 uncertain significance Hereditary spastic paraplegia 54 2022-06-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 612 of the DDHD2 protein (p.Ser612Ala). This variant is present in population databases (rs142193606, gnomAD 0.02%). 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: 568523). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000688911 SCV002788194 uncertain significance Hereditary spastic paraplegia 54 2022-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026308 SCV004853889 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.1834T>G (p.S612A) alteration is located in exon 15 (coding exon 14) of the DDHD2 gene. This alteration results from a T to G substitution at nucleotide position 1834, causing the serine (S) at amino acid position 612 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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