ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.127C>T (p.His43Tyr)

gnomAD frequency: 0.00005  dbSNP: rs751145177
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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 RCV001985369 SCV002223110 uncertain significance Hereditary spastic paraplegia 28 2021-11-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 43 of the DDHD1 protein (p.His43Tyr). This variant is present in population databases (rs751145177, 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 DDHD1-related conditions. 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: "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.
Ambry Genetics RCV003170105 SCV003886950 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.127C>T (p.H43Y) 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 127, causing the histidine (H) at amino acid position 43 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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