ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe)

dbSNP: rs1224881006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614683 SCV000712630 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing The p.Leu750Phe variant in MYO7A has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Leu750Phe vari ant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529340 SCV003290999 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 750 of the MYO7A protein (p.Leu750Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 505430). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYO7A protein function with a negative predictive value of 95%. 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 RCV003160069 SCV003903941 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.2248C>T (p.L750F) alteration is located in exon 19 (coding exon 18) of the MYO7A gene. This alteration results from a C to T substitution at nucleotide position 2248, causing the leucine (L) at amino acid position 750 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272501 SCV001454573 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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