ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.1636G>A (p.Val546Ile)

gnomAD frequency: 0.00004  dbSNP: rs376117918
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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 RCV001306273 SCV001495636 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 546 of the INPPL1 protein (p.Val546Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with clinical features of opsismodysplasia (PMID: 29276006). ClinVar contains an entry for this variant (Variation ID: 488146). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000681622 SCV000809062 uncertain significance Opsismodysplasia 2017-06-01 no assertion criteria provided research

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