ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4999G>A (p.Asp1667Asn)

gnomAD frequency: 0.00004  dbSNP: rs758251388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647052 SCV000768839 uncertain significance Hypertrophic cardiomyopathy 14 2017-08-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH6-related disease. ClinVar contains an entry for this variant (Variation ID: 312848). This variant is present in population databases (rs758251388, ExAC 0.02%). This sequence change replaces aspartic acid with asparagine at codon 1667 of the MYH6 protein (p.Asp1667Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756391 SCV000884188 uncertain significance not specified 2019-05-11 criteria provided, single submitter clinical testing The MYH6 c.4999G>A; p.Asp1667Asn variant (rs758251388), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 312848). This variant is found in the general population with an overall allele frequency of 0.004% (12/282842 alleles) in the Genome Aggregation Database. The aspartate at codon 1667 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Asp1667Asn variant is uncertain at this time.

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