ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1229C>T (p.Thr410Met)

gnomAD frequency: 0.00005  dbSNP: rs768931734
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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 RCV002010619 SCV002290508 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 385 of the DVL1 protein (p.Thr385Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs768931734, ExAC 0.009%). This variant has not been reported in the literature in individuals with DVL1-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: "Probably 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 RCV004045955 SCV004861164 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.1154C>T (p.T385M) alteration is located in exon 12 (coding exon 12) of the DVL1 gene. This alteration results from a C to T substitution at nucleotide position 1154, causing the threonine (T) at amino acid position 385 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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