ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)

dbSNP: rs121909486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380261 SCV001578257 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing 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"). ClinVar contains an entry for this variant (Variation ID: 7000). This variant is also known as N246K. This missense change has been observed in individual(s) with clinical features of nail-patella syndrome (PMID: 9590287; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 269 of the LMX1B protein (p.Asn269Lys). Experimental studies have shown that this missense change affects LMX1B function (PMID: 9590287). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005049319 SCV005679879 likely pathogenic Nail-patella syndrome; Nail-patella-like renal disease 2024-05-10 criteria provided, single submitter clinical testing
OMIM RCV000007415 SCV000027615 pathogenic Nail-patella syndrome 1998-05-01 no assertion criteria provided literature only

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