ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr)

gnomAD frequency: 0.00001  dbSNP: rs763408172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246355 SCV001419702 uncertain significance Nemaline myopathy 2 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1921 of the NEB protein (p.Asp1921Tyr). This variant is present in population databases (rs763408172, gnomAD 0.03%). 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: 970727). 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 RCV004649542 SCV005146307 uncertain significance Inborn genetic diseases 2024-03-26 criteria provided, single submitter clinical testing The c.5761G>T (p.D1921Y) alteration is located in exon 45 (coding exon 43) of the NEB gene. This alteration results from a G to T substitution at nucleotide position 5761, causing the aspartic acid (D) at amino acid position 1921 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004768971 SCV005379980 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001246355 SCV002077669 uncertain significance Nemaline myopathy 2 2020-10-16 no assertion criteria provided clinical testing

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