ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)

gnomAD frequency: 0.00001  dbSNP: rs374476865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249838 SCV000319237 uncertain significance Cardiovascular phenotype 2014-02-17 criteria provided, single submitter clinical testing The p.A170T variant (also known as c.508G>A), located in coding exon 5 of the COL3A1 gene, results from a G to A substitution at nucleotide position 508. The alanine at codon 170 is replaced by threonine, an amino acid with some similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.01% (1/13,006), having been observed in 0.02% (1/4406) of African American alleles and in none of 8600 European American alleles. Based on protein sequence alignment, this amino acid position is not conserved in available vertebrate species, and threonine is the reference amino acid in dolphin. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000868023 SCV001009306 likely benign Ehlers-Danlos syndrome, type 4 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189402 SCV001356687 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-18 criteria provided, single submitter clinical testing
GeneDx RCV004591107 SCV005078144 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); Has not been previously published as pathogenic or benign to our knowledge

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