ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.687GAA[2] (p.Lys231del)

dbSNP: rs121918034
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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 RCV002513049 SCV003439488 uncertain significance not provided 2022-08-29 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is also known as del Lys212. This variant has been observed in individual(s) with autosomal recessive plasminogen deficiency (PMID: 10233898). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.693_695del, results in the deletion of 1 amino acid(s) of the PLG protein (p.Lys231del), but otherwise preserves the integrity of the reading frame.
OMIM RCV000014549 SCV000034800 pathogenic Plasminogen deficiency, type I 1999-05-15 no assertion criteria provided literature only

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