ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1361C>A (p.Ala454Asp)

gnomAD frequency: 0.00010  dbSNP: rs147802150
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000911176 SCV001056234 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169284 SCV003869830 uncertain significance Inborn genetic diseases 2023-01-31 criteria provided, single submitter clinical testing The c.1361C>A (p.A454D) alteration is located in exon 9 (coding exon 9) of the FN1 gene. This alteration results from a C to A substitution at nucleotide position 1361, causing the alanine (A) at amino acid position 454 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000911176 SCV004183865 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000911176 SCV005243906 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004746152 SCV005353384 likely benign FN1-related disorder 2024-08-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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