ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.445A>G (p.Asn149Asp)

gnomAD frequency: 0.00151  dbSNP: rs140430822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495734 SCV001700423 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001495734 SCV002000274 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003298885 SCV004004875 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.445A>G (p.N149D) alteration is located in exon 6 (coding exon 5) of the HPS4 gene. This alteration results from a A to G substitution at nucleotide position 445, causing the asparagine (N) at amino acid position 149 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003948449 SCV004759517 likely benign HPS4-related disorder 2021-02-24 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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