ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg)

gnomAD frequency: 0.00001  dbSNP: rs397516319
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Total submissions: 3
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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 RCV000036190 SCV000059842 uncertain significance not specified 2011-06-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Leu1843Arg variant in MYO7A has not been reported in the literature nor previously identifi ed by our laboratory. This residue is conserved across species and computational analyses (biochemical amino acid change, homology, PolyPhen2, SIFT) suggest tha t the Leu1843Arg variant may impact the protein. However, this information is no t predictive enough to assume pathogenicity. The presence of this variant in com bination with a pathogenic MYO7A variant and in an individual with clinical feat ures of hearing loss, increases the likelihood that the Leu1843Arg variant is pa thogenic. However, it should be noted that this lab has only sequenced MYO7A in 22 Black probands and no Black healthy controls. In addition, healthy control in formation is limited in either public databases or scientific literature, such t hat the full spectrum of benign variation has not yet been defined for this gene . Future analysis could reveal that the Leu1843Arg variant is common in this pop ulation and therefore unlikely to be pathogenic. In summary, the clinical signif icance of this variant cannot be determined with certainty at this time.
Ambry Genetics RCV003162312 SCV003882638 uncertain significance Inborn genetic diseases 2023-03-14 criteria provided, single submitter clinical testing The c.5528T>G (p.L1843R) alteration is located in exon 40 (coding exon 39) of the MYO7A gene. This alteration results from a T to G substitution at nucleotide position 5528, causing the leucine (L) at amino acid position 1843 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273513 SCV001456624 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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