ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.23C>T (p.Thr8Ile)

gnomAD frequency: 0.00011  dbSNP: rs142653342
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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 RCV000646142 SCV000767899 uncertain significance Atrial fibrillation, familial, 6 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 8 of the NPPA protein (p.Thr8Ile). This variant is present in population databases (rs142653342, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with NPPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 537320). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004639304 SCV005138939 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.23C>T (p.T8I) alteration is located in exon 1 (coding exon 1) of the NPPA gene. This alteration results from a C to T substitution at nucleotide position 23, causing the threonine (T) at amino acid position 8 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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