Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000155213 | SCV000204899 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Pro548His in Exon 16 of MYO3A: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (15/3732) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs143918373). |
| Illumina Laboratory Services, |
RCV000385505 | SCV000361928 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 30 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Eurofins Ntd Llc |
RCV000731529 | SCV000859360 | uncertain significance | not provided | 2018-02-04 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000731529 | SCV000885806 | uncertain significance | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | The p.Pro548His variant (rs143918373) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.4 percent in the African population (identified on 95 out of 24,022 chromosomes) and has been reported to the ClinVar database (Variation ID: 178465). The proline at position 548 is highly conserved up to frog considering 11 species (Alamut v2.10) and computational analyses of the effects of the p.Pro548His variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Pro548His variant with certainty. |
| Invitae | RCV000731529 | SCV001046645 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV000731529 | SCV001147854 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000731529 | SCV002568673 | uncertain significance | not provided | 2022-08-11 | 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 |
| Ambry Genetics | RCV003242994 | SCV003938113 | uncertain significance | Inborn genetic diseases | 2023-04-04 | criteria provided, single submitter | clinical testing | The c.1643C>A (p.P548H) alteration is located in exon 16 (coding exon 14) of the MYO3A gene. This alteration results from a C to A substitution at nucleotide position 1643, causing the proline (P) at amino acid position 548 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |