ClinVar Miner

Submissions for variant NM_001377229.1(DISP1):c.743C>T (p.Ala248Val)

gnomAD frequency: 0.00001  dbSNP: rs1029577112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muenke lab, National Institutes of Health RCV000453630 SCV000510563 uncertain significance Holoprosencephaly sequence criteria provided, single submitter research Inherited from an unaffected mother
Labcorp Genetics (formerly Invitae), Labcorp RCV002522740 SCV003459347 uncertain significance not provided 2022-04-16 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. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 248 of the DISP1 protein (p.Ala248Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with holoprosencephaly (PMID: 28640243). ClinVar contains an entry for this variant (Variation ID: 397657). 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").

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