ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.00004  dbSNP: rs759123154
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584685 SCV001812663 likely benign not provided 2020-12-23 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001584685 SCV003266338 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002569110 SCV003721270 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.1021C>T (p.R341W) alteration is located in exon 10 (coding exon 9) of the MYH9 gene. This alteration results from a C to T substitution at nucleotide position 1021, causing the arginine (R) at amino acid position 341 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733366 SCV005344429 uncertain significance MYH9-related disorder 2024-05-27 no assertion criteria provided clinical testing The MYH9 c.1021C>T variant is predicted to result in the amino acid substitution p.Arg341Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of Latino descent in gnomAD, including one homozygous individual, which may be too common to be causative. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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