ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn)

gnomAD frequency: 0.00001  dbSNP: rs767235227
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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 RCV000220609 SCV000272067 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing The p.Lys1301Asn variant in MYH9 has not been previously reported in individuals with hearing loss or MYH9-related disorder. This variant has been identified in 1/65600 European chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs767235227); however this frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conserv ation analyses do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Lys1301Asn variant is uncer tain.
Ambry Genetics RCV002517570 SCV003696995 uncertain significance Inborn genetic diseases 2022-10-05 criteria provided, single submitter clinical testing The c.3903G>C (p.K1301N) alteration is located in exon 29 (coding exon 28) of the MYH9 gene. This alteration results from a G to C substitution at nucleotide position 3903, causing the lysine (K) at amino acid position 1301 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003727637 SCV004533136 likely benign not provided 2023-10-17 criteria provided, single submitter clinical testing

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