ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg)

dbSNP: rs376609115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593497 SCV000702968 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531015 SCV003018508 uncertain significance Nemaline myopathy 2 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 7547 of the NEB protein (p.Pro7547Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 498118). 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: "Not Available"; 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 RCV003160013 SCV003873583 uncertain significance Inborn genetic diseases 2023-03-14 criteria provided, single submitter clinical testing The c.17432C>G (p.P5811R) alteration is located in exon 127 (coding exon 125) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 17432, causing the proline (P) at amino acid position 5811 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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